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1.
J Foot Ankle Surg ; 62(3): 498-500, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36623981

RESUMO

Brachymetatarsia is caused by premature closure of the physis and is characterized by a short metatarsal. Additional foot conditions may exist in patients presenting with brachymetatarsia, such as hallux valgus (HV). A retrospective study was performed to evaluate the prevalence of HV and brachymetatarsia in the ipsilateral foot. Ninety-seven feet with congenital brachymetatarsia were reviewed in a multi-study cohort of 66 patients who underwent surgical correction between January 2005 and August 2020 at a single institution. The group was comprised of 61 females and 5 males, with a mean age of 27 years. HV deformities were verified with standardized anteroposterior radiographs. HV was present in 29 of 97 feet for a prevalence of 30% in the feet with brachymetatarsia. Our results demonstrate a 30% prevalence of HV associated with brachymetatarsia. This information is helpful for foot and ankle surgeons managing brachymetatarsia to determine appropriate conservative or surgical management of this condition.


Assuntos
Joanete , Deformidades Congênitas do Pé , Hallux Valgus , Ossos do Metatarso , Osteogênese por Distração , Masculino , Feminino , Humanos , Adulto , Estudos Retrospectivos , Prevalência , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/cirurgia , Ossos do Metatarso/anormalidades , Osteogênese por Distração/métodos , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/cirurgia , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/epidemiologia , Hallux Valgus/cirurgia
2.
Am J Med Genet A ; 182(6): 1438-1448, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32259393

RESUMO

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.


Assuntos
Anquilose/genética , Ossos do Carpo/anormalidades , Proteínas de Transporte/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Perda Auditiva Condutiva/genética , Estribo/anormalidades , Sinostose/genética , Ossos do Tarso/anormalidades , Falanges dos Dedos do Pé/anormalidades , Anquilose/complicações , Anquilose/epidemiologia , Anquilose/patologia , Ossos do Carpo/patologia , Criança , Pré-Escolar , China/epidemiologia , Feminino , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/patologia , Estudos de Associação Genética , Predisposição Genética para Doença , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/patologia , Perda Auditiva Condutiva/complicações , Perda Auditiva Condutiva/epidemiologia , Perda Auditiva Condutiva/patologia , Humanos , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Fenótipo , Estribo/patologia , Sinostose/complicações , Sinostose/epidemiologia , Sinostose/patologia , Ossos do Tarso/patologia , Falanges dos Dedos do Pé/patologia , Dedos do Pé/anormalidades , Dedos do Pé/patologia , Sequenciamento do Exoma
3.
Orthop Traumatol Surg Res ; 106(1S): S115-S123, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31648997

RESUMO

Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic period and cause anatomical defects, and deformations, which occur during the fetal period on a foot that is configured normally. These deformities are more easily cured when they occur later during the fetal period. When the anomaly is bilateral, a genetic origin must be considered. There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. Among other forefoot abnormalities are hallux valgus, which rarely presents in congenital form, and for which conservative treatment is sometimes sufficient. Also in this group are sequelae of amniotic band constriction, forefoot anomalies secondary to the treatment of congenital pathologies (talipes equinovarus and congenital vertical talus) and nail-related pathologies (ingrown toe nail and incorrect nail position).


Assuntos
Deformidades Congênitas do Pé/diagnóstico , Ossos do Metatarso/anormalidades , Criança , Deformidades Congênitas do Pé/epidemiologia , Saúde Global , Humanos , Incidência , Ossos do Metatarso/diagnóstico por imagem , Radiografia
4.
Foot Ankle Clin ; 24(4): 657-667, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31653370

RESUMO

Metatarsus adductus (MA) is a congenital condition resulting in adduction of the forefoot at the tarsometatarsal joint, medial metatarsal deviation, supination of the hindfoot through the subtalar joint, and plantarflexed first ray. The exact underlying pathophysiology remains elusive. There is increasing evidence highlighting the importance of recognizing MA as an associated deformity that complicates management of hallux valgus (HV). Unfortunately, metatarsalgia and lesser toe pathology is also common in this population. We present a review regarding the epidemiology, pathomechanics, and a comprehensive surgical treatment algorithm to optimize the management of patients with MA, HV, lesser toe deformity, and metatarsalgia.


Assuntos
Deformidades Congênitas do Pé/terapia , Metatarsalgia/terapia , Deformidades Congênitas do Pé/complicações , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/fisiopatologia , Humanos , Metatarsalgia/etiologia , Metatarsalgia/fisiopatologia , Osteotomia
5.
Ortop Traumatol Rehabil ; 21(6): 447-456, 2019 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-32100718

RESUMO

BACKGROUND: Posture disorders not treated in early childhood may lead to serious diseases and dysfunctions later. The aim of the study was to assess the incidence of lower limb defects in pre-school children. MATERIAL AND METHODS: The study covered 513 children (252 girls and 261 boys) aged 4-6, in chosen kinder-gartens of the Lódz agglomeration . The child's body posture was assessed using a visual method based on the Kasperczyk scoring scale in own modification. RESULTS: Foot defects occurred in the examined group with a frequency of 85.58% (439/513): in 4-year-olds: 82.59%, in 5- and 6-year-olds: 87.5%. Foot defects were more common in girls in the entire study group (86.9 vs. 84.29%), in 4-year-olds (87.88 vs. 77.45%) and 6-year-olds (88.89 vs. 86.25%), and in boys in the 5-year-olds group (91.14 vs. 83.95%). Defects of the knee joints, including varus and valgus knee, occurred in the study group with a frequency of 52.83% (271/513): in 4-year-olds: 56.72%, in 5-year-olds: 45.63% and in 6-year-olds: 55.26%. Defects were more frequent in girls in the entire study group (54.37 vs. 51.34) and in 4-year-olds (58.59 vs. 54.90%), and in boys in the 5-year-old group (50.63 vs. 40.74%). In the 6-year-olds group, the defects were statistically significantly more common in girls than boys (63.89 vs. 47.5%, p = 0.0442). CONCLUSION: A high percentage of lower limb defects rate at more than half of the examined pre-school children population is disturbing and requires effective systemic action.


Assuntos
Deformidades Congênitas do Pé/epidemiologia , Traumatismos do Joelho/epidemiologia , Deformidades Congênitas das Extremidades Inferiores/epidemiologia , Postura/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Masculino , Polônia/epidemiologia , Prevalência , Fatores Sexuais
6.
Birth Defects Res ; 110(2): 134-141, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29377639

RESUMO

BACKGROUND: Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of the hand or foot at the level of the metacarpal-phalangeal joint or the metatarsal-phalangeal joint. The occurrence of this type of polydactyly varies among racial groups, by sex and sidedness. Postaxial polydactyly, type A is a fully developed extra digit on the lateral aspect of the hand or foot with a bifid fifth or sixth metacarpal/metatarsal and is much less common. METHODS: In a malformations surveillance program, the frequency in racial groups, sex ratio and the frequency of other anomalies can be established. RESULTS: Five hundred forty-five affected infants were identified from 1972 to 2012 in the surveillance of 289,365 liveborn and stillborn infants and elective terminations because of fetal anomalies detected prenatally. Postaxial polydactyly, type B was an isolated anomaly in 95% of the affected newborns. There were more affected males than females. Black infants were affected more often than White infants: 0.91/100 vs. 0.035/100 infants. The dangling extra digit was much more common in the hands than in the feet. CONCLUSIONS: Postaxial polydactyly, type B is almost always an isolated, mild malformation with no medical significance. Postaxial polydactyly, types B and A occurred in several infants, suggesting that either the underlying mutation(s) can cause both types of postaxial polydactyly or that some affected infants have more than one mutation. Autosomal dominant inheritance with variable expressivity is postulated.


Assuntos
Dedos/anormalidades , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas da Mão/epidemiologia , Polidactilia/epidemiologia , Dedos do Pé/anormalidades , Feminino , Dedos/anatomia & histologia , Pé/anatomia & histologia , Mãos/anatomia & histologia , Humanos , Lactente , Recém-Nascido , Masculino , Articulação Metacarpofalângica/anormalidades , Ossos do Metatarso/anormalidades , Dedos do Pé/anatomia & histologia
7.
Hum Genet ; 137(2): 111-127, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29305691

RESUMO

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN). All patients were clinically suspected of CAPOS and had hearing problems. In this retrospective analysis of audiological data, we show for the first time that cochlear outer hair cell activity was preserved as shown by the presence of otoacoustic emissions and cochlear microphonic potentials, but the auditory brainstem responses were grossly abnormal, likely reflecting neural dyssynchrony. Poor speech perception was observed, especially in noise, which was beyond the hearing level obtained in the pure tone audiograms in several of the patients presented here. Molecular modelling and in vitro electrophysiological studies of the specific CAPOS mutation were performed. Heterologous expression studies of α3 with the p.Glu818Lys mutation affects sodium binding to, and release from, the sodium-specific site in the pump, the third ion-binding site. Molecular dynamics simulations confirm that the structure of the C-terminal region is affected. In conclusion, we demonstrate for the first time evidence for auditory neuropathy in CAPOS syndrome, which may reflect impaired propagation of electrical impulses along the spiral ganglion neurons. This has implications for diagnosis and patient management. Auditory neuropathy is difficult to treat with conventional hearing aids, but preliminary improvement in speech perception in some patients suggests that cochlear implantation may be effective in CAPOS patients.


Assuntos
Ataxia Cerebelar/genética , Deformidades Congênitas do Pé/genética , Perda Auditiva Central/genética , Perda Auditiva Neurossensorial/genética , Atrofia Óptica/genética , Reflexo Anormal/genética , ATPase Trocadora de Sódio-Potássio/genética , Adolescente , Adulto , Ataxia Cerebelar/epidemiologia , Ataxia Cerebelar/fisiopatologia , Criança , Pré-Escolar , Dinamarca/epidemiologia , Feminino , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/fisiopatologia , Alemanha/epidemiologia , Perda Auditiva Central/epidemiologia , Perda Auditiva Central/fisiopatologia , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Masculino , Simulação de Dinâmica Molecular , Mutação de Sentido Incorreto/genética , Atrofia Óptica/epidemiologia , Atrofia Óptica/fisiopatologia , Fenótipo , Estudos Retrospectivos , ATPase Trocadora de Sódio-Potássio/química , Suécia/epidemiologia , Adulto Jovem
8.
Pediatr Radiol ; 47(13): 1793-1799, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28879597

RESUMO

BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. MATERIALS AND METHODS: A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. RESULTS: Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate neonatal demise (5), lost to follow-up (1), and 6 survivors with postnatal follow-up. CONCLUSION: In our series, there were no cases of isolated congenital vertical talus, with additional anomalies variably affecting multiple systems including the brain, spine, face, viscera and limbs. When congenital vertical talus is identified prenatally, a thorough search for additional anomalies is indicated. Fetal MRI can be a useful adjunct in confirming the diagnosis and further delineating additional anomalies, particularly in the brain and spine.


Assuntos
Calcâneo/anormalidades , Deformidades Congênitas do Pé/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Anormalidades Múltiplas , Diagnóstico Diferencial , Feminino , Deformidades Congênitas do Pé/epidemiologia , Humanos , Incidência , Imageamento por Ressonância Magnética , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal
9.
Foot Ankle Int ; 36(11): 1316-21, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26202480

RESUMO

BACKGROUND: Metatarsus adductus (MA) increases the risk of developing symptomatic hallux valgus (HV). This study aimed to determine the prevalence of MA in patients with symptomatic HV and to evaluate how it affected the functional outcome after scarf osteotomy. METHODS: Between January 2007 and June 2012, a total of 206 patients who underwent scarf osteotomy for symptomatic HV at a tertiary hospital were included. The metatarsus adductus angle (MAA) was determined using the Modified Sgarlato method, and these patients were categorized into 2 groups: MA (MAA > 20 degrees); and Control (MAA ≤ 20 degrees). The patients were prospectively followed for 2 years. RESULTS: The prevalence of MA was 33% (68/206) with a mean MAA of 24 ± 4 degrees (range = 20-39). There was a 21 ± 12 degrees and 18 ± 9 degrees improvement in hallux valgus angle for the MA and Control groups, respectively (P = .061), whereas there was a 6 ± 4 degrees and 6 ± 3 degrees improvement in intermetartarsal angle for the MA and Control groups, respectively (P = .475). The visual analog scale, AOFAS Hallux Metatarsophalangeal-Interphalangeal Scale, and Physical and Mental Component Scores were comparable between the 2 groups both preoperatively and at 2 years' follow-up (all P > .05). Two patients in the control group required revision surgery for recurrence symptomatic HV. CONCLUSION: The authors conclude that MA did not predispose the patient to poorer functional outcome after scarf osteotomy with the advent of good operative techniques. LEVEL OF EVIDENCE: Level II, prospective comparative study.


Assuntos
Deformidades Congênitas do Pé/epidemiologia , Hallux Valgus/complicações , Hallux Valgus/cirurgia , Metatarso/anormalidades , Adulto , Idoso , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/fisiopatologia , Hallux Valgus/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Osteotomia , Prevalência , Estudos Prospectivos , Qualidade de Vida , Radiografia , Amplitude de Movimento Articular/fisiologia , Recuperação de Função Fisiológica , Resultado do Tratamento
10.
Anat Sci Int ; 90(3): 144-60, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24801385

RESUMO

The prevalence and distribution of the sesamoid bones in the feet has been reported in the literature with a high degree of variability. This systematic review aims to provide a better estimate of the frequency of the sesamoids of the foot and their association with variables such as ancestry, gender, and side. Thirty-seven studies met the inclusion criteria and were submitted for meta-analyses, sensitivity analyses and proportion difference tests, whenever possible. At the metatarsophalangeal (MTP) joint of the hallux, sesamoids were nearly always present. At the interphalangeal (IP) joint, the pooled true estimates of large-sampled studies were: (1) an overall prevalence of 22.4 %, (2) a cadaveric rate at 71.6 %, and (3) a radiological rate (based on X-ray images) of 21.1 %. The pooled partition frequencies of the hallucal medial and lateral sesamoids were 10.7 and 1.3 %, respectively. Bipartism was the most frequent partition type (92 %), followed by tripartism (7.5 %) and quadripartism (0.5 %). Middle Eastern ancestry was associated with significantly lower hallucal partition rate (P < 0.0001) and African ancestry with significantly lower prevalence of the IP sesamoid than all other ethnicities (P < 0.001). Feet with a hallux valgus deformity seemed to be associated with significantly higher rate of partition of the medial sesamoid (odds ratio = 3) than that of the normal feet. The respective values of the pooled true prevalence in adults at the MTP joint for the 2nd, 3rd, 4th and 5th toes were 1.9, 0.32, 0.9 and 13 %, respectively. There was a significantly higher prevalence of tibial sesamoids vs lateral sesamoids, with pooled odds ratio of 34.7, 8, 4.8, and 2.27, respectively. Partition was found in around 10 % of the sesamoids of the 5th MTP joint; no partition was noted in the other toes. For most 2nd-5th MTP joints, European ancestry showed the highest frequency whereas African ancestry showed the lowest; Middle Eastern ancestry was in between. No sesamoids were found at the 4th proximal IP joint and at the 4th and 5th distal IP joints. No sesamoids were found at any IP joint in the feet of Middle Eastern and African populations. The pooled rates of the IP sesamoids of the second and third toes in European populations were 1.2 % for the 2nd proximal, 0.33 % for the second distal and 0.6 % for both IP joints of the third toe. This anatomical meta-analysis yielded results that are likely to be more accurate regarding the rates of the sesamoids in the foot, their laterality and partition. It also provided solid evidence for the genetic basis of the frequency distribution among the different populations.


Assuntos
Deformidades Congênitas do Pé/epidemiologia , Ossos Sesamoides/anormalidades , Adolescente , Adulto , África/epidemiologia , Idoso , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Hallux Valgus/epidemiologia , Humanos , Masculino , Articulação Metatarsofalângica/anormalidades , Pessoa de Meia-Idade , Oriente Médio/epidemiologia , Prevalência , Grupos Raciais , Articulação do Dedo do Pé/anormalidades , Adulto Jovem
11.
Foot Ankle Int ; 35(12): 1292-7, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25237174

RESUMO

BACKGROUND: Metatarsus adductus (MA) is a congenital condition in which there is adduction of the metatarsals in conjunction with supination of the hindfoot through the subtalar joint. It is generally believed that MA precedes the development of hallux valgus. Historically, studies have demonstrated that patients with a history of MA were ~3.5 times more likely to develop hallux valgus. The purpose of this study was to identify the relative prevalence of MA in patients undergoing surgery for symptomatic hallux valgus. METHODS: Between 2002 and 2012, 587 patients who underwent hallux valgus surgery were retrospectively identified following IRB approval and parameters including the hallux valgus angle (HVA), the intermetatarsal angle (IMA), and the metatarsus adductus angle (MAA) were recorded. The MAA was considered abnormal if the value was greater than 20 degrees. Interobserver and intraobserver reliability studies for the measurement of the MAA were completed as well. RESULTS: Using the modified Sgarlato technique for measurement of the MAA, there was a high interobserver and intraobserver reliability. The interclass and intraclass coefficients were greater than .90. The prevalence of MA in this patient population was found to be 29.5%. Of those patients with MA, 23 males and 150 females were identified. This gave a male to female ratio of 1:6.5 (P < .00001). Lesser toe deformities (claw toes, hammertoes) were the most commonly associated diagnoses identified. When stratified by severity, 113 (65%) patients had an MAA between 21 and 25 degrees, 41 (23.7%) had an MAA between 26 and 30 degrees, 8 (4.6%) patients had an MAA between 31 and 35 degrees, and 11 (6.3%) patients had an MAA greater than 36 degrees. CONCLUSION: Historically the prevalence of MA in patients with hallux valgus has been reported to be 35%. The data in this study indicate a comparable prevalence at 29.4%. The presence of concomitant MA may portend different outcomes for operative treatment of hallux valgus. Further research needs to delineate rates of persistence of deformity in this patient population to guide operative management. LEVEL OF EVIDENCE: Level IV, case series.


Assuntos
Deformidades Congênitas do Pé/epidemiologia , Hallux Valgus/cirurgia , Metatarso/anormalidades , Amplitude de Movimento Articular/fisiologia , Articulação Talocalcânea/anormalidades , Distribuição por Idade , Estudos de Coortes , Feminino , Seguimentos , Deformidades Congênitas do Pé/diagnóstico por imagem , Hallux Valgus/diagnóstico por imagem , Hallux Valgus/epidemiologia , Humanos , Masculino , Metatarso/diagnóstico por imagem , Variações Dependentes do Observador , Osteotomia/métodos , Prevalência , Radiografia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Articulação Talocalcânea/diagnóstico por imagem
12.
Pediatr Phys Ther ; 26(2): 253-64, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24675132

RESUMO

PURPOSE: The purpose of this report is to explore assessment and serial casting intervention for painful rigid flatfoot deformities with vertical talus in an adolescent girl with hereditary spastic paraplegia who was nonambulatory. SUMMARY OF KEY POINTS: The participant's right foot underwent 2 phases of casting with correction first toward hindfoot inversion and then dorsiflexion. Because of a vertical talus, her left foot required an intermediate casting toward plantar flexion, inversion, and forefoot adduction prior to casting toward dorsiflexion. STATEMENT OF CONCLUSIONS: The patient improved despite the underlying progressive neuromuscular disorder. Pain ameliorated and she returned to supported standing and transfers. Spasticity decreased bilaterally and the flexibility of her foot deformities improved to allow orthotic fabrication in subtalar neutral. Results were maintained at 12 and 16 months. RECOMMENDATIONS FOR CLINICAL PRACTICE: Individualized multiphase serial casting requires further investigation with patients such as those with hereditary spastic paraplegia.


Assuntos
Moldes Cirúrgicos , Pé Chato/reabilitação , Deformidades Congênitas do Pé/reabilitação , Paraplegia Espástica Hereditária/reabilitação , Fenômenos Biomecânicos , Criança , Feminino , Pé Chato/epidemiologia , Deformidades Congênitas do Pé/epidemiologia , Humanos , Dor/etiologia , Modalidades de Fisioterapia , Paraplegia Espástica Hereditária/epidemiologia
14.
J Hand Surg Eur Vol ; 39(9): 958-65, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24362255

RESUMO

This study was designed to investigate the prevalence of dorsal dimelia in a series of 160 consecutive patients with congenital anomalies of the hands and feet, and to investigate the distribution of dorsal dimelia and the concurrent anomalies. Five cases (3.1%) showed evidence of dorsal dimelia and the distribution of dorsal dimelia was similar to the distribution of concurrent anomalies in all five cases. Another 11 cases of concurrent dorsal dimelia with other congenital anomalies have been reported previously with a positive match in the distributions in all cases. This similarity in the distribution in all 16 reported cases (including the five cases in the current study) is statistically significant. It is concluded that dorsal dimelia in humans is not as rare as it is generally thought to be, and that it may be viewed as an error of dorso-ventral patterning, which occurs in the same distribution as other concurrent anomalies.


Assuntos
Ectromelia/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Canal Anal/anormalidades , Criança , Pré-Escolar , Estudos Transversais , Ectromelia/classificação , Ectromelia/epidemiologia , Esôfago/anormalidades , Feminino , Deformidades Congênitas do Pé/classificação , Deformidades Congênitas do Pé/epidemiologia , Deformidades da Mão/classificação , Deformidades da Mão/diagnóstico , Deformidades da Mão/epidemiologia , Deformidades Congênitas da Mão/classificação , Deformidades Congênitas da Mão/epidemiologia , Cardiopatias Congênitas/classificação , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Humanos , Lactente , Rim/anormalidades , Deformidades Congênitas dos Membros/classificação , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Masculino , Fenótipo , Estudos Prospectivos , Coluna Vertebral/anormalidades , Síndrome , Polegar/anormalidades , Traqueia/anormalidades
15.
Int. j. morphol ; 31(1): 162-168, mar. 2013. ilus
Artigo em Espanhol | LILACS | ID: lil-676152

RESUMO

Los problemas ortopédicos del pie en el niño son los más frecuentes en esta época de la vida. Por esto, es importante hacer la diferenciación entre un pie normal y un pie alterado. El objetivo fue determinar la prevalencia de pie plano y pie cavo en alumnos de enseñanza básica de Arica. 420 alumnos (210 niñas y 210 niños) de 3 diferentes tipos de colegios de enseñanza básica de la ciudad de Arica, en edades de entre 6 a 12 años, aparentemente sanos, fueron medidos. A todos los sujetos en estudio se les realizó una evaluación podoscópica de la huella plantar desde el plano anteroposterior. A los padres, apoderados y profesores se les aplicó una encuesta sobre el grado de conocimiento y las implicancias de estas anomalías. Los resultados muestran en los niños varones una prevalencia de un 31,6% para pie plano y un 11,6% para pie cavo, en relación a un 56,8% de niños con pie normal. En las niñas los valores indican un 24,3% para pie plano y un 14,4% para pie cavo. El peso y el índice de masa corporal presentan una correlación positiva en la expresión de anomalías de pie en la población estudiantil de Arica-Chile. El Colegio "Regimiento Rancagua", de tipo municipal, gratuito, presenta los más altos índices de anomalías de pie (45%), Colegio particular (43%) y el Colegio particular subvencionado, los menores índices con un valor de 35%. En el análisis de las encuestas se observa que padres a apoderados tienen pocos conocimientos sobre estas alteraciones y sus consecuencias en la postura. Pie plano es la anomalía de mayor conocimiento por padres y los profesores. Se concluye que pie plano presenta mayor prevalencia en la población estudiantil de Arica, con un 28% y pie cavo una prevalencia total de un 13%.


Orthopedic foot problems in children are the most common at this time of life. For this reason it is important to differentiate between a normal foot and an altered foot. The aim of this study was to determine the prevalence of flat and cavus foot in elementary schoolchildren to Arica, Chile. Four hundred and twenty students (210 girls and 210 boys) from 3 different schools of elementary education in the city of Arica, ages 6-12 years, apparently healthy, were measured. All study subjects underwent an assessment of the footprint from the anteroposterior plane, using a podograph. Parents and teachers were surveyed about the level of knowledge and the implications of these anomalies. The results show in boys a prevalence of 31.6% for flat foot and 11.6% for cavus foot. In girls the prevalence was 24.3% to flat foot and 14.4% for cavus foot. The weight and body mass index are positively correlated in expression standing anomaly in the student population of Arica, Chile. The public, municipal and gratuitous schools, have the highest standing indices of anomalies, with values of 45%. The private schools (43%), subsidized private schools, showing lower rates of abnormal foot, with 35%. In the analysis of the survey shows that few parents have knowledge of these changes and their consequences for the position. Flat foot is the anomaly of greater awareness by parents and teachers. We conclude that flatfoot is more prevalent in the student population of Arica, with 28%, cavus foot presenting a prevalence of 13%.


Assuntos
Humanos , Masculino , Feminino , Criança , Deformidades Congênitas do Pé/epidemiologia , Postura , Pé Chato/epidemiologia , Chile/epidemiologia , Epidemiologia Descritiva , Prevalência , Ensino Fundamental e Médio , Distribuição por Idade e Sexo , Pé Cavo/epidemiologia
16.
Compr Psychiatry ; 54(5): 575-80, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23312878

RESUMO

UNLABELLED: Minor physical anomalies (MPAs) have been consistently reported to be more frequent in schizophrenia subjects. Limited research has been conducted on these anomalies among biological relatives of patients with schizophrenia. The aims of this study were to investigate the MPAs in a Tunisian population: subjects with schizophrenia, their healthy siblings and control subjects. This study hypothesized that the mean MPAs score would be greater in patients than controls and that siblings would have intermediate scores. Furthermore, it was hypothesized that MPAs scores would be associated with negative and disorganised symptoms of schizophrenia. METHODS: We assessed 93 subjects with schizophrenia, 59 of their healthy siblings and 71 healthy controls, matched on gender and age. MPAs were assessed through use of a standardized scale derived from the Waldrop Scale [D. Gourion, G. Viot, C. Goldberger, M. Cartier, M.C. Bourdel, M.F. Poirier, J.P. Olié, H. Lôo, M.O. Krebs, 2001. French validation of a Minor Morphologic Anomalies Scale in schizophrenic patients and their parents. Encephale 27, 143-147]. The schizophrenia psychopathology was evaluated by the Positive and Negative Syndrome Scale (PANSS), Global Assessment of Functioning (GAF) and the Clinical Global Impression-Severity (CGI-S). RESULTS: Subjects with schizophrenia showed significantly higher MPAs score than siblings (4.6 ± 2.8 vs. 3.0 ± 2.1, p<0.0001) and controls groups: 1.9 ± 1.5 (p<0.0001). Siblings had significantly higher score than control subjects (p=0.02). MPAs were correlated negatively with age of onset of the disease, and age of first hospitalisation, and positively with number of hospitalisations. Positive correlations were found between MPAs and PANSS total score, PANSS negative sub-score and CGI-S score. COMMENTS: Results of this study showed that MPAs are more frequent in subjects with schizophrenia and their siblings compared to control subjects. Positive correlations were found between MPAs, age of onset, severity of illness, and negative symptoms of schizophrenia, suggesting that those anomalies are correlated to severe form of schizophrenia.


Assuntos
Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas da Mão/epidemiologia , Cabeça/anormalidades , Anormalidades Musculoesqueléticas/epidemiologia , Esquizofrenia/epidemiologia , Adulto , Antropometria , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Irmãos , Tunísia/epidemiologia
17.
Homo ; 63(3): 167-81, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22640697

RESUMO

Tarsal and tarsometatarsal coalitions are malsegmentation errors that result in incomplete division between two or more normally separate bones of the foot. Coalitions may be osseous, characterized by bony union, or non-osseous, in which the affected elements are united by fibrous tissue, cartilage, or some combination of both. Evidence indicates that non-osseous coalitions are frequently overlooked or misinterpreted in skeletal samples. The purpose of this study is to (1) report two non-osseous coalition cases (naviculocuneiform I, CF3-MT3) from the Ocmulgee Mound Site in Georgia, and (2) examine the occurrence of coalitions throughout the foot in Native American samples relative to other major populations. Evidence suggests that Native Americans exhibit a pattern of coalitions in the foot that differs from that recently documented for European and African samples. Native Americans display a relatively high rate of midfoot and forefoot coalitions, and known cases are both geographically and temporally diverse. This distribution, along with evidence of similar patterns in East Asian samples, suggests that the pattern of coalition seen in Native Americans has origins in Asiatic parent populations during the late Pleistocene. Individuals migrating to the New World with proximal midfoot coalitions are likely to have endured biomechanical stress during prolonged physical activity and walking, as frequently seen in modern clinical cases.


Assuntos
Índios Norte-Americanos , Ossos do Metatarso/anormalidades , Ossos do Tarso/anormalidades , Adulto , Fenômenos Biomecânicos , Feminino , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/patologia , Deformidades Congênitas do Pé/fisiopatologia , Fósseis , Georgia/epidemiologia , Humanos , Masculino , Ossos do Metatarso/fisiopatologia , Ossos do Tarso/fisiopatologia , Caminhada/fisiologia
18.
J Med Assoc Thai ; 95 Suppl 9: S54-61, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23326983

RESUMO

BACKGROUND: The congenital orthopaedic anomalies in Thai population had a limited data and the previously studies are based on only hospital chart records. OBJECTIVE: To determine the incidence of common congenital orthopedic problems by physical examination in newborn at Siriraj Hospital. MATERIAL AND METHOD: A prospective study was conducted by physical examination of 3,396 newborns from June 2009 to September 2009. All orthopaedic abnormalities of newborns were recorded along with maternal age, obstetric history of mother, complications during pregnancy, complications in labour stage, mode of delivery and presentation. Sex of newborn, birth weight, body length and APGAR score were recorded. RESULTS: Incidence of calcaneovalgus was found in 60:1,000 live births following by metatarsus adductus in 7.6:1,000, polydactyly or syndactyly in 2.6:1,000, talipes equninovarus in 2.4:1,000, brachial plexus injury in 1.5:1,000, developmental dysplasia of hip in 0.6:1,000, osteogenesis imperfecta in 0.6:1,000, skeketal dysplasia in 0.6:1,000, congenital vertical talus in 0.3: 1,000 and fracture clavicle at birth in 0.3: 1,000. CONCLUSION: In the present study, the calcaneovalgus was the most common orthopaedic problem followed by metatasus adductus, polydactyly or syndactyly.


Assuntos
Osso e Ossos/anormalidades , Adolescente , Doenças do Desenvolvimento Ósseo/epidemiologia , Feminino , Deformidades Congênitas do Pé/epidemiologia , Humanos , Incidência , Recém-Nascido , Masculino , Gravidez , Tailândia , Adulto Jovem
19.
J Pediatr Orthop ; 31(5): 564-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21654467

RESUMO

BACKGROUND: Congenital vertical talus (CVT) is a rare foot deformity, but it is a commonly associated anomaly in patients with multiple pterygium syndrome (MPS). If left untreated, it can cause pain and morbidity, which will affect the patient's ambulation and quality of life. The aim of this study was to assess the prevalence of CVT among patients with MPS, to characterize the clinical and radiological features and examine the outcome of treatment. METHODS: We reviewed the medical records from 1969 to 2009, and detected 14 patients with a diagnosis of MPS. Data regarding clinical findings, radiographs, associated anomalies, and treatment were collected and analyzed. RESULTS: CVT was seen in 10 of 14 patients (71%). All of them had bilateral involvement. Eight of the 10 (80%) were girls, and 3 of these 10 (30%) were nonambulatory patients. All 7 ambulatory patients had manipulation and casting, followed by a single-stage surgical release. The mean age at surgery was 3.0 ± 3.7 years (range, 3 mo-9 y 2 mo). At the last follow-up, all of the 7 patients (100%) had painless plantigrade feet and a reduced talonavicular joint, and none had recurrence of the deformity. The overall mean follow-up was 6 years (range, 2-19 y) and the mean age at the last follow-up was 9 years (range, 2-23 y). The commonly associated anomalies were scoliosis (93%), tethered cord (14%), hip dislocation (43%), cardiac (29%), respiratory (43%), and gastrointestinal anomalies (29%). CONCLUSIONS: CVT is common in MPS. The other common anomalies included scoliosis, hip dislocation, and respiratory problems. Treatment with manipulation and casting followed by, a single-stage surgical release resulted in a good outcome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Deformidades Congênitas do Pé/diagnóstico por imagem , Hipertermia Maligna/diagnóstico , Procedimentos Ortopédicos/métodos , Pterígio/diagnóstico , Tálus/anormalidades , Criança , Pré-Escolar , Feminino , Pé Chato , Seguimentos , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/terapia , Humanos , Lactente , Masculino , Prevalência , Radiografia , Estudos Retrospectivos , Anormalidades da Pele , Tálus/diagnóstico por imagem , Fatores de Tempo , Estados Unidos/epidemiologia
20.
Homo ; 62(2): 109-25, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21377674

RESUMO

Bipartition of the medial cuneiform is a malsegmentation defect of the foot characterized by separation of the normal cuneiform into dorsal and plantar segments. In many cases, these segments are held together by means of a cartilaginous or fibrocartilaginous bridge, resulting in a deep, lytic-like pit in dry bone reminiscent of those seen in cases of non-osseous tarsal coalition. Partial bipartition, where separation of the two segments is incomplete, may also occur. Though originally documented over 250 years ago, relatively little is known about the bipartite medial cuneiform. The purpose of this paper is to present thirteen new cases (ten complete, three partial) from Egypt, England, South Africa, Denmark, and the United States, and to analyze all known cases to investigate patterns in sex, laterality, frequency, and associated anomalies. Results suggest that bipartite medial cuneiforms are significantly more prevalent in males. Bipartite medial cuneiforms are also frequently bilateral, perhaps indicating a strong genetic component. Identification of this condition in multiple individuals from a cemetery could, therefore, suggest a familial relationship. Frequencies of this variant are consistently less than 1% in most large samples, and significant frequency differences among samples from around the world are rare. Several other minor congenital variations have been noted in individuals with bipartition of the medial cuneiform. However, additional systematic research is needed to elucidate further the prevalence of associated variants.


Assuntos
Ossos do Tarso/anormalidades , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Deformidades Congênitas do Pé/epidemiologia , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/história , Deformidades Congênitas do Pé/patologia , História do Século XVIII , História do Século XIX , História do Século XX , História do Século XXI , Humanos , Masculino , Ossos do Metatarso/anormalidades , Pessoa de Meia-Idade , Fatores Sexuais
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