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1.
Medicine (Baltimore) ; 98(45): e17887, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31702664

RESUMO

RATIONALE: Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is a rare, developmental bone disorder of childhood. PATIENT CONCERNS: A 9-year-old girl was admitted due to pain in front of the medial malleolus of her right foot after a long walk or distance movement, in which the pain could be relieved after rest, while it was repeated and lasted for several months. DIAGNOSIS: Dysplasia epiphysealis hemimelica INTERVENTIONS:: The patient underwent an open resection surgery. After operation, the pain was totally relieved. Postoperative pathological diagnosis showed DEH. OUTCOMES: At the 6-month follow-up, pain and claudication symptoms fully disappeared, and range of motion of the right foot returned to normal level. CONCLUSIONS: Dysplasia epiphysealis hemimelica is an uncommon disease which can cause pain of foot in children. LESSONS: When the pediatric orthopedic surgeon treated the children suffered with foot pain should be aware of this rare disease, especially accessory scaphoid bone was found in another foot.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Fêmur/anormalidades , Osso Escafoide/anormalidades , Tíbia/anormalidades , Doenças do Desenvolvimento Ósseo/cirurgia , Criança , Feminino , Fêmur/cirurgia , Pé/patologia , Humanos , Osso Escafoide/diagnóstico por imagem , Osso Escafoide/cirurgia , Tíbia/cirurgia , Resultado do Tratamento
2.
J Pediatr Orthop ; 39(3): 141-145, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30730418

RESUMO

BACKGROUND: Pelvic incidence increases gradually throughout growth until skeletal maturity. Growing rod instrumentation has been suggested to have a stabilizing effect on the development of the normal sagittal spinal alignment. The purpose of this study is to determine the effect of fixed sagittal plane caused by dual growing rod instrumentation on the natural progression of sagittal spinopelvic parameters in children with idiopathic or idiopathic-like early onset scoliosis. METHODS: Hospital records of children with growing rod instrumentation from 4 separate institutions were reviewed retrospectively. Inclusion criteria were idiopathic or idiopathic-like early onset scoliosis, treatment with dual growing rods with lower instrumented vertebra L4 or upper and more than 2 years of follow-up. Instrumentation levels, magnitudes of major curve, thoracic kyphosis (T2-T12), lumbar lordosis (L1-S1) and pelvic incidence were recorded from preoperative and postoperative standing whole-spine radiographs. Estimated pelvic incidence was also calculated for each patient as if their spines had not been instrumented using the previous normative data. RESULTS: A total of 37 patients satisfied the inclusion criteria. Average age at initial surgery was 7.4±1.8 years (range, 4 to 12 y). Mean follow-up time was 71±26 months (range, 27 to 120 mo). Mean preoperative Cobb angle of 59±13.5 (range, 30 to 86) degrees was reduced to 35.1±17.5 (range, 11 to 78) degrees at the last follow-up. Mean preoperative T2-T12 kyphosis angle was 46.2±14.9 degrees (range, 22 to 84 degrees). At the latest follow-up, it was 44.8±16.2 degrees (range, 11 to 84 degrees) (P=0.93). Mean L1-S1 lordosis angle was 50.5±10.7 degrees (range, 30 to 72 degrees) preoperatively. At the latest follow-up, mean L1-S1 lordosis angle was 48.8±12.7 degrees (range, 26 to 74 degrees) (P=0.29). Mean preoperative pelvic incidence was 45.7±7.9 degrees (range, 30 to 68 degrees). At the latest follow-up, it was 46.7±8.4 degrees (range, 34 to 72 degrees) (P=0.303). The estimated average pelvic incidence was 49.5 degrees (P=0.012). CONCLUSIONS: Previously reported developmental changes of the sagittal spinal parameters were not observed in children who underwent posterior spinal instrumentation. Our findings suggest that spinal instrumentation impedes the natural development of the sagittal spinal profile. LEVEL OF EVIDENCE: Level IV-this is a retrospective case-series.


Assuntos
Doenças do Desenvolvimento Ósseo , Fixadores Internos , Cifose , Lordose , Pelve , Escoliose , Fusão Vertebral , Coluna Vertebral , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/cirurgia , Criança , Progressão da Doença , Feminino , Seguimentos , Humanos , Cifose/diagnóstico por imagem , Cifose/etiologia , Cifose/prevenção & controle , Lordose/diagnóstico por imagem , Lordose/etiologia , Lordose/prevenção & controle , Masculino , Avaliação de Resultados (Cuidados de Saúde) , Pelve/diagnóstico por imagem , Pelve/crescimento & desenvolvimento , Pelve/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Radiografia/métodos , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Fusão Vertebral/instrumentação , Fusão Vertebral/métodos , Coluna Vertebral/crescimento & desenvolvimento , Coluna Vertebral/cirurgia
3.
Am J Med Genet A ; 176(12): 2896-2900, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30548146

RESUMO

Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. NFIX gene, where most of the mutations in Malan syndrome are located. She did not have advanced bone age. The radiographs of long bones showed metaphyseal changes which were not reported previously. This study reports the first mutation proven case from India and highlights the overlap between MSS and Malan syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Estudos de Associação Genética , Genótipo , Fatores de Transcrição NFI/genética , Fenótipo , Displasia Septo-Óptica/diagnóstico , Displasia Septo-Óptica/genética , Alelos , Pré-Escolar , Análise Mutacional de DNA , Éxons , Facies , Feminino , Estudos de Associação Genética/métodos , Humanos , Mutação , Radiografia
4.
J Surg Orthop Adv ; 27(1): 58-63, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29762118

RESUMO

Alternative medicine in pediatrics is expanding, with chiropractic now a common choice for families seeking alternative medical care. Currently, there is sparse information in the literature exploring the role of chiropractic in orthopaedic pathology. The objective of this case series is to present pediatric patients who received treatment from chiropractors and orthopaedic physicians as well as to review the respective existing research. Data collected included chiropractic diagnosis, orthopaedic diagnosis, imaging studies, treatments, and complications. Twenty-three patients were studied. Scoliosis, Legg-Calvé-Perthes disease, developmental dysplasia of the hip, cerebral palsy, skeletal dysplasia, and slipped capital femoral epiphysis were diagnoses included. Children had multiple sessions of chiropractic for management of these conditions. The parents' perception for chiropractic was positive in every case. Delayed referral, misdiagnosis, adverse events from manipulative therapy, and ineffective treatments were observed in the present study. More research is indicated to validate chiropractic in children with orthopaedic pathology. (Journal of Surgical Orthopaedic Advances 27(1):58-63, 2018).


Assuntos
Doenças Ósseas/diagnóstico , Paralisia Cerebral/diagnóstico , Quiroprática , Erros de Diagnóstico , Ortopedia , Pediatria , Encaminhamento e Consulta , Adolescente , Atitude Frente a Saúde , Doenças Ósseas/terapia , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/terapia , Paralisia Cerebral/terapia , Criança , Pré-Escolar , Terapias Complementares , Diagnóstico Tardio , Feminino , Luxação Congênita de Quadril/diagnóstico , Luxação Congênita de Quadril/terapia , Humanos , Lactente , Doença de Legg-Calve-Perthes/diagnóstico , Doença de Legg-Calve-Perthes/terapia , Masculino , Pais , Escoliose/diagnóstico , Escoliose/terapia , Escorregamento das Epífises Proximais do Fêmur/diagnóstico , Escorregamento das Epífises Proximais do Fêmur/terapia
5.
Acta Orthop Traumatol Turc ; 52(3): 216-221, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29598843

RESUMO

OBJECTIVE: Disparity in size between femoral head and acetabulum could promote premature degeneration of the hip joint. The purpose of this study was to report the results of Kawamura's dome osteotomy for acetabular dysplasia due to sequelae of Perthes' disease. PATIENTS AND METHODS: Fourteen patients (14 hips) operated between 1999 and 2012 were retrospectively reviewed. There were 9 males and 5 females with a mean age of 29 years (range, 15-54 years). Functional and radiological results were reviewed at mean follow-up of 9 years (range, 4-12 years). RESULTS: Pain relief was obtained in 13 of 14 (92.8%) patients postoperatively. Good to excellent functional outcome was obtained in 10 of 14 (71.4%) patients. Mean Harris hip score was improved from 63 to 84 (p < 0.05) at the final follow-up. Improvement of limping gait was observed in 10 of 14 (71.4%) patients. Center edge angle improved from mean 24° (11-36°) preoperatively to mean 35° (27-46°) postoperatively (p < 0.05), acetabular angle improved from mean 43° (36-49°) preoperatively to mean 37° (32-44°) postoperatively (p < 0.05), acetabular head index improved from mean 69% (50-83%) preoperatively to mean 85% (73-100%) postoperatively (p < 0.05). Progression of arthrosis stage occurred in 3 of 14 (21%) patients. None of the hip with preoperative Stulberg III, 2 of 9 hips with Stulberg IV and 2 of 2 hips with Stulberg V needed conversion to total hip arthroplasty during the follow-up. CONCLUSION: Dome osteotomy of the pelvis combined with trochanteric advancement could give a reasonable treatment outcome for acetabular dysplasia due to Perthes' disease at mid to long-term follow-up. Advanced stage of arthrosis, preoperative Stulberg V and no improvement of limping gait after the surgery possibly associated with poor outcome. LEVEL OF EVIDENCE: Level IV, therapeutic study.


Assuntos
Acetábulo , Doenças do Desenvolvimento Ósseo , Doença de Legg-Calve-Perthes , Osteotomia , Acetábulo/diagnóstico por imagem , Acetábulo/patologia , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/cirurgia , Feminino , Articulação do Quadril/diagnóstico por imagem , Humanos , Doença de Legg-Calve-Perthes/complicações , Doença de Legg-Calve-Perthes/cirurgia , Masculino , Osteotomia/efeitos adversos , Osteotomia/métodos , Pelve/cirurgia , Radiografia/métodos , Estudos Retrospectivos , Resultado do Tratamento
6.
BMJ Case Rep ; 20182018 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-29444796

RESUMO

Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD (ANKH and GJA1) resulted negative in this patient. The peculiar clinical association and the negativity of genetic analyses allow to hypothesise that other genetic causes, not already known, are responsible for the combination of these pathological conditions. Future studies aim to identify the genetic causes of CMD, which will be important to further understand the pathogenetic mechanism of this rare and invalidating disease.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Hiperostose/diagnóstico , Hipertelorismo/diagnóstico , Adulto , Biópsia , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/patologia , Encéfalo/diagnóstico por imagem , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/patologia , Humanos , Hiperostose/complicações , Hiperostose/patologia , Hipertelorismo/complicações , Hipertelorismo/patologia , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/diagnóstico
7.
Vet Ophthalmol ; 21(5): 539-543, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29251408

RESUMO

A novel case of a canine odontogenic parakeratinized cyst (COPC) that resulted in exophthalmos and palatine, maxillary, and zygomatic bone erosion in a 5-year-old Chihuahua dog is reported. Final diagnosis was aided by cross-sectional imaging (magnetic resonance imaging and computed tomography) and confirmed with histologic examination of the cyst wall.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Cão/diagnóstico , Exoftalmia/diagnóstico , Cistos Odontogênicos/diagnóstico , Animais , Doenças do Desenvolvimento Ósseo/complicações , Diagnóstico Diferencial , Doenças do Cão/diagnóstico por imagem , Cães , Exoftalmia/complicações , Feminino , Imagem por Ressonância Magnética/veterinária , Maxila/patologia , Cistos Odontogênicos/complicações , Palato Duro/patologia , Tomografia Computadorizada por Raios X/veterinária , Zigoma/patologia
8.
Knee Surg Sports Traumatol Arthrosc ; 26(3): 746-755, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28315921

RESUMO

PURPOSE: To make a systematic review with quality assessments of the known measurements used to describe trochlear dysplasia. METHODS: A systematic literature search was conducted in the databases PubMed and Embase using the search string "trochlea dysplasia OR trochlear dysplasia". Papers were screened for their relevance based on predefined parameters, and all measurements showing a statistical association between trochlear dysplasia and patellar instability were presented. Four experts evaluated the quality of the measures using a purpose-made quality scale. RESULTS: The search generated 600 papers of which eight were chosen for review. Thirty-three unique measurements were identified and described in order of their date of publication. The lateral trochlea inclination was rated highest by the expert panel. The crossing sign, the trochlea bump, the TT-TG distance, the trochlea depth and the ventral trochlea prominence also had high ratings. CONCLUSION: Thirty-three unique measurements were identified with the lateral trochlea inclination as the highest rated measurement by the expert panel, and it is recommended for use in assessment of trochlear dysplasia. The crossing sign, the trochlea bump, the TT-TG, the trochlea depth and the ventral trochlea prominence were also rated well and can be recommended for use. LEVEL OF EVIDENCE: V.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Fêmur/diagnóstico por imagem , Instabilidade Articular/diagnóstico , Articulação do Joelho/diagnóstico por imagem , Tomografia Computadorizada por Raios X/normas , Doenças do Desenvolvimento Ósseo/complicações , Humanos , Instabilidade Articular/etiologia
9.
Dermatol Online J ; 24(9)2018 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-30677836

RESUMO

La aplasia cutis congénita es una rara alteración caracterizada por la ausencia de áreas localizadas de piel en el momento del nacimiento. Suele manifestarse como una lesión solitaria localizada principalmente en el cuero cabelludo, que puede estar asociada con otras malformaciones congénitas. Las complicaciones pueden ser fatales, por lo que es necesario un tratamiento individualizado que vendrá determinado por el tamaño, localización y grado de afectación de estructuras subyacentes. Presentamos un caso de aplasia cutis congénita del cuero cabelludo con múltiples lesiones y defecto óseo subyacente de 3 × 1.5 cm de tamaño, pero sin otras anomalías asociadas. El manejo conservador permitió una adecuada y completa epitelización cutánea con cierre del defecto óseo subyacente sin necesidad de procedimientos invasivos.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/terapia , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/terapia , Tratamento Conservador , Feminino , Humanos , Recém-Nascido , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/terapia , Crânio/anormalidades
10.
Int J Pediatr Otorhinolaryngol ; 103: 109-112, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29224748

RESUMO

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico , Perda Auditiva Condutiva/etiologia , Deficiência Intelectual/diagnóstico , Proteínas Repressoras/genética , Anormalidades Dentárias/diagnóstico , Anormalidades Múltiplas/genética , Audiometria , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/genética , Criança , Facies , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Mutação , Fenótipo , Anormalidades Dentárias/complicações , Anormalidades Dentárias/genética
11.
JBJS Case Connect ; 7(3): e67, 2017 Jul-Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29252895

RESUMO

CASE: Trevor disease (dysplasia epiphysealis hemimelica [DEH]) is a rare, intra-articular anomaly of cartilaginous overgrowth of the epiphysis. The usual presentation is on 1 side of the body and on 1 side of the epiphysis. The natural history of this disease is not clear because the lesions often are treated during childhood. Additionally, hip involvement is relatively uncommon; to our knowledge, total hip arthroplasty in a patient with DEH has not been reported previously. Our patient presented with previously untreated DEH of the hip joint, which had developed into a very unusual shape. He was treated with a total hip arthroplasty and had satisfactory functioning 2.5 years postsurgery. CONCLUSION: Untreated DEH of the hip can lead to a very misshapen hip with a deformed femoral head and loss of the shape of the acetabulum, as well as stiffness due to an unusual shape and osteoarthritic changes. A total hip arthroplasty can give satisfactory functional results.


Assuntos
Acetábulo/anormalidades , Artroplastia/métodos , Doenças do Desenvolvimento Ósseo/diagnóstico , Epífises/anormalidades , Fêmur/anormalidades , Quadril/patologia , Desigualdade de Membros Inferiores/diagnóstico , Tíbia/anormalidades , Acetábulo/patologia , Acetábulo/cirurgia , Adulto , Doenças do Desenvolvimento Ósseo/cirurgia , Epífises/patologia , Epífises/cirurgia , Fêmur/cirurgia , Quadril/diagnóstico por imagem , Humanos , Período Intraoperatório , Desigualdade de Membros Inferiores/cirurgia , Masculino , Radiografia/métodos , Tíbia/cirurgia , Resultado do Tratamento
13.
Eur J Med Genet ; 60(12): 685-689, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28917829

RESUMO

Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features. The boy was admitted because of severe physical growth retardation and mild motor retardation. Comprehensive medical evaluations were performed including metabolic studies, endocrine function examination, bone X-rays and echocardiography. Much delayed bone age and geleophysic dysplasia were found. Targeted next-generation sequencing was used to detect genetic mutations associated with skeletal dysplasia. Sanger sequencing was used to confirm the mutations in the patient. PCR amplification, cloing, and sequencing was used to determine the de novo mutation origin. Two compound heterozygous mutations were confirmed in the ADAMTSL2 gene of the patient. The c.340G > A (p.Glu114Lys) mutation was a de novo heterozygous mutation, and our results suggested that it was located on the paternal allele. While the c.234-2A > G inherited from his mother was a novel pathogenic heterozygous splicing mutation. Growth hormone deficiency had been observed in the patient. His growth velocity was improved by growth hormone supplementation. In conclusion, we have identified a novel splicing mutation of ADAMTSL2 carried by a Chinese boy with geleophysic dysplasia type 1. The patient was treated effectively with growth hormone supplementation.


Assuntos
Proteínas ADAMTS/genética , Doenças do Desenvolvimento Ósseo/genética , Deformidades Congênitas dos Membros/genética , Mutação de Sentido Incorreto , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/tratamento farmacológico , Pré-Escolar , Hormônio do Crescimento/deficiência , Hormônio do Crescimento/uso terapêutico , Heterozigoto , Humanos , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/tratamento farmacológico , Masculino , Processamento de RNA
14.
Curr Osteoporos Rep ; 15(5): 419-424, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28808977

RESUMO

PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. One needs to consider that a patient with short stature has a skeletal dysplasia as options for management may be available.


Assuntos
Osteocondrodisplasias/diagnóstico , Acondroplasia/diagnóstico , Acondroplasia/diagnóstico por imagem , Acondroplasia/tratamento farmacológico , Acondroplasia/genética , Fosfatase Alcalina/uso terapêutico , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/tratamento farmacológico , Doenças do Desenvolvimento Ósseo/genética , Terapia de Reposição de Enzimas , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipofosfatasia/diagnóstico , Hipofosfatasia/diagnóstico por imagem , Hipofosfatasia/tratamento farmacológico , Hipofosfatasia/genética , Imunoglobulina G/uso terapêutico , Natriuréticos/uso terapêutico , Peptídeo Natriurético Tipo C/uso terapêutico , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/tratamento farmacológico , Osteocondrodisplasias/genética , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/genética , Radiografia , Proteínas Recombinantes de Fusão/uso terapêutico , Proteínas Recombinantes , Análise de Sequência de DNA , Proteína de Homoeobox de Baixa Estatura/deficiência , Proteína de Homoeobox de Baixa Estatura/genética
17.
J Fam Pract ; 66(5): E1-E6, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28459895

RESUMO

Objective: To reduce unnecessary orthopedic referrals by developing a protocol for managing physiologic bow legs in the primary care environment through the use of a noninvasive technique that simultaneously tracks normal varus progression and screens for potential pathologic bowing requiring an orthopedic referral. Methods: Retrospective study of 155 patients with physiologic genu varum and 10 with infantile Blount`s disease. We used fingerbreadth measurements to document progression or resolution of bow legs. Final diagnoses were made by one orthopedic surgeon using clinical and radiographic evidence. We divided genu varum patients into 3 groups: patients presenting with bow legs before 18 months of age (MOA), patients presenting between 18 and 23 MOA, and patients presenting at 24 MOA or older for analyses relevant to the development of the follow-up protocol. Results: Physiologic genu varum patients walked earlier than average infants (10 months vs 12-15 months; P<.001). Physiologic genu varum patients presenting before 18 MOA demonstrated initial signs of correction between 18 and 24 MOA and resolution by 30 MOA. Physiologic genu varum patients presenting between 18 and 23 MOA demonstrated initial signs of correction between 24 MOA and 30 MOA and resolution by 36 MOA. Conclusion: Primary care physicians can manage most children presenting with bow legs. Management focuses on following the progression or resolution of varus with regular follow-up. For patients presenting with bow legs, we recommend a follow-up protocol using mainly well-child checkups and a simple clinical assessment to monitor varus progression and screen for pathologic bowing.


Assuntos
Protocolos Clínicos , Genu Varum/diagnóstico , Genu Varum/terapia , Atenção Primária à Saúde , Doenças do Desenvolvimento Ósseo/diagnóstico , Pré-Escolar , Humanos , Lactente , Osteocondrose/congênito , Osteocondrose/diagnóstico , Exame Físico/métodos , Encaminhamento e Consulta , Estudos Retrospectivos
18.
Ann Endocrinol (Paris) ; 78(2): 114-122, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28495326

RESUMO

Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization. Bone dysplasia mostly affect many organs, and therefore require multidisciplinary follow-up and care. The role of the pediatric endocrinologist is to assess the growth potential of these patients in coordination with the other caregivers, offer the best management of the growth to limit the psychosocial consequences of the extreme short stature and bone deformities.


Assuntos
Doenças do Desenvolvimento Ósseo/genética , Transtornos do Crescimento/genética , Estatura , Tamanho Corporal , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/terapia , Nanismo/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/terapia , Humanos , Osteocondrodisplasias/diagnóstico , Doenças Raras
19.
Dent. press endod ; 7(2): 32-38, May-Aug. 2017.
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-859390

RESUMO

Introdução: a displasia cemento-óssea periapical (DCOP) é uma lesão idiopática benigna mais prevalente na região de incisivos centrais inferiores, em mulheres negras, na faixa etária dos 30 aos 50 anos. Apresenta características radiográficas que podem levar o cirurgião-dentista a um diagnóstico e plano de tratamento equivocados, por ser confundida com periapicopatias. Objetivo: o objetivo do presente artigo foi, por meio de uma revisão de literatura, descrever essa patologia. Métodos: essa revisão foi feita por meio de buscas em duas das principais bases de dados mundiais: PubMed e SciELO. Para isso, foram usados os descritores "periapical cementoosseus dysplasia" e "displasia cemento-óssea periapical", com o objetivo de se avaliar o conteúdo sobre essa temática na literatura atual. Resultados: foram coletados 24 artigos científicos que obedeciam aos seguintes critérios de inclusão: ser uma revisão de literatura ou caso clínico; escrito em língua portuguesa ou inglesa, nos períodos de 1989 a 2016; contemplando a etiologia, características clínicas e radiográficas, diagnóstico, plano de tratamento e prognóstico referentes à displasia cemento-óssea periapical. Conclusão: é importante para o profissional reconhecer os aspectos relevantes da DCOP, a fim de elucidar o diagnóstico diferencial e tratamento e, assim, evitar procedimentos iatrogênicos, tais como terapias endodônticas desnecessárias.


Assuntos
Humanos , Doenças do Desenvolvimento Ósseo/diagnóstico , Diagnóstico Bucal , Endodontia , Displasia Fibrosa Óssea/diagnóstico , Doenças Maxilares/diagnóstico , Patologia Bucal
20.
Eur J Med Genet ; 60(7): 391-394, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28442439

RESUMO

Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty. Central precocious puberty has not been described in association with MRSHSS previously in the medical literature and broadens our knowledge of the natural history of MRSHSS. The causes of advanced bone age in this syndrome are also reviewed. Additionally, the patient showed progressive dilatation of the aortic root. Although connective tissue abnormalities have been described in association with MRSHSS, aortic root dilatation has not. Understanding the mechanism of comorbidities such as advanced bone age and aortic root dilatation in MRSHSS patients enables future development of anticipatory guidance, preventative care measures, and treatment guidelines.


Assuntos
Anormalidades Múltiplas/genética , Doenças da Aorta/genética , Doenças do Desenvolvimento Ósseo/genética , Anormalidades Craniofaciais/genética , Mutação , Fatores de Transcrição NFI/genética , Puberdade Precoce/genética , Displasia Septo-Óptica/genética , Anormalidades Múltiplas/diagnóstico , Adulto , Doenças da Aorta/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico , Criança , Anormalidades Craniofaciais/diagnóstico , Feminino , Humanos , Masculino , Puberdade Precoce/diagnóstico , Displasia Septo-Óptica/diagnóstico
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