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1.
Niger Postgrad Med J ; 27(3): 237-241, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687125

RESUMO

Context: Although congenital hand anomalies are among the more common musculoskeletal anomalies worldwide, we do not know its prevalence in our practice. Aims: The aim of the study was to determine the pattern of congenital hand anomalies presenting to our tertiary plastic surgery outpatient service in South-Western Nigeria. Materials and Methods: This is a cross-sectional retrospective analysis of outpatient cases of congenital hand anomalies presenting over a 10-year period. Descriptive and inferential statistics were performed using frequencies, Student's t-test and Chi-square as appropriate. The data were analysed using IBM SPSS Statistics 23.0. The statistical significance value was set at P < 0.05. Results: One hundred and twenty-two cases were identified. The highest number of cases was seen in the year 2012, 23 patients (19.3%). There was a male preponderance of 66 patients (55.1%). Thirty-two patients (26.2%) presented as neonates and 36 (29.5%) as infants. Bilateral anomalies were seen in 67 patients (54.9%). The most common anomaly was failure of differentiation, 88 patients (72.1%) followed by duplication, 26 patients (21.3%). Syndactyly with 43 patients (35.2%) was the most common anomaly under failure of differentiation. No significant associations were found between the type of anomaly and gender or laterality. Conclusions: Syndactyly was the most common congenital hand anomaly in this study. There was a preponderance of bilateral involvement in both syndactyly and polydactyly.


Assuntos
Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/cirurgia , Polidactilia/diagnóstico , Polidactilia/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/estatística & dados numéricos , Centro Cirúrgico Hospitalar/estatística & dados numéricos , Sindactilia/diagnóstico , Sindactilia/cirurgia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Estudos Transversais , Deformidades Congênitas da Mão/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades Musculoesqueléticas/epidemiologia , Nigéria/epidemiologia , Polidactilia/epidemiologia , Estudos Retrospectivos , Distribuição por Sexo , Cirurgia Plástica , Sindactilia/epidemiologia , Adulto Jovem
2.
Clin Dysmorphol ; 29(2): 73-80, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31895055

RESUMO

Cenani-Lenz syndactyly (CLS) is a rare autosomal recessive syndrome characterized by disorganized oligosyndactyly of upper and lower limbs as well as radioulnar synostosis. Structural renal abnormalities are also common. We report two affected brothers, born to orthodox Jewish parents, in whom we found a novel homozygous missense variant c.4910G>A; p.(Cys1637Tyr) in LRP4 situated in an EGF-like domain between the fourth beta-propeller and transmembrane domains. Both brothers have had recurrent ketotic hypoglycaemia which has not been associated previously. We present 3D computed tomographic imaging illustrating the limb abnormalities in detail.


Assuntos
Homozigoto , Hipoglicemia/diagnóstico , Hipoglicemia/genética , Proteínas Relacionadas a Receptor de LDL/genética , Mutação , Irmãos , Sindactilia/diagnóstico , Sindactilia/genética , Pré-Escolar , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Radiografia , Tomografia Computadorizada por Raios X
3.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 46(4): 163-166, oct.-dic. 2019. tab, graf, ilus
Artigo em Espanhol | IBECS | ID: ibc-184305

RESUMO

Los trastornos relacionados con mutaciones del gen IRF6, comprenden desde una afectación casi asintomática con la única presencia de hoyuelos labiales que son la manifestación más sutil del síndrome de van der Woude, hasta manifestaciones congénitas graves que incluyen anomalías faciales, musculoesqueléticas y genitourinarias que corresponden al síndrome de pterigium poplíteo. Pese a que existe cierta relación fenotipo-genotipo entre las mutaciones del gen IRF6, estas tienen una penetrancia incompleta y una expresión variable, inter e intrafamiliar


The disorders related to IRF6 encompass a spectrum from an almost asymptomatic affectation, with the only presence of isolated lip pits, which are a mild presentation of van der Woude syndrome, to the presence in the other extreme, of congenital manifestations that include facial anomalies, musculoskeletal and genitourinary malformations, corresponding to popliteal pterygium syndrome. Although there is a certain phenotype-genotype relationship between mutations of the IRF6 gene, such mutations have incomplete penetrance and variable inter-and intra-familial expression


Assuntos
Humanos , Feminino , Gravidez , Adulto , Anormalidades Múltiplas/diagnóstico , Fenda Labial/diagnóstico , Dedos/anormalidades , Sindactilia/diagnóstico , Mutação , Fenda Labial/genética , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Feto/anormalidades
4.
Orthop Traumatol Surg Res ; 105(6): 1187-1191, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31353234

RESUMO

BACKGROUND: Primary and revision surgery for complete complex congenital syndactyly (CCCS) of the hand carries a risk of complications such as web maceration, which can result in flap or graft loss and alter the final appearance. No consensus emerges from the scant published data on postoperative care after CCCS surgery. The objective of this study was to assess the role for temporary external fixation in stabilising the commissure and facilitating surgical wound care. HYPOTHESIS: Using external fixation after CCCS release facilitates postoperative wound care and decreases the complication rate. MATERIAL AND METHODS: Eighteen patients requiring primary CCCS surgery or revision CCCS surgery due to adhesions or web creep were included in a single-centre retrospective study. After release, an external fixator made of Kirschner pins was installed to temporarily immobilise the inter-phalangeal joints. The dressing was changed every 3 days for 3 weeks, and the external fixator was then removed. The parents and nurses completed questionnaires that used 0-10 point scales to assess ease and duration of dressing changes and perceptions and apprehensions experienced by parents and nurses, as well as pain by patients, during dressing changes. RESULTS: No patient experienced maceration or failure of a graft or flap. Pin site discharge was noted in 1 patient and resolved fully after pin removal. Pain intensity was estimated at 4.2/10 during the first dressing change and 1.3/10 during the last dressing change. In the parents, apprehension was 9.6/10 and 5.1/10 during the first and last dressing changes, and stress was 8.1/10 and 4.1/10, respectively. Dressing change difficulty was rated 1.1/10 at the first and 0.9/10 at the last dressing change. Dressing change duration decreased from 13 to 10minutes. CONCLUSION: These encouraging results support temporary commissure stabilisation by an external fixator to decrease postoperative complication rates and facilitate dressing changes after CCCS release. LEVEL OF EVIDENCE: IV, retrospective observational study.


Assuntos
Bandagens , Fixadores Externos , Dedos/anormalidades , Cuidados Pós-Operatórios/métodos , Retalhos Cirúrgicos , Infecção da Ferida Cirúrgica/prevenção & controle , Sindactilia/cirurgia , Pré-Escolar , Feminino , Dedos/cirurgia , Humanos , Lactente , Masculino , Radiografia , Estudos Retrospectivos , Sindactilia/diagnóstico
6.
J Dent Child (Chic) ; 86(1): 53-60, 2019 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30992102

RESUMO

Lacrimo-auriculo-dento-digital syndrome (LADD) is a rare autosomal dominant disorder arising from heterozygous mutations in the genes encoding fibroblast growth factor receptors two and three and the gene encoding the fibroblast growth factor 10. The characteristics associated with LADD are mainly related with hypoplasia or aplasia of lacrimal and salivary ducts, low cup-shaped ears, sensorineural or conductive hearing loss, abnormalities of teeth, and anomalies of the hands and feet. The purpose of this paper is to describe a 13-year-old female patient with a history of a blocked tear duct, mild hearing loss, congenitally missing teeth, tauro- dontism, and malformation of the fingers who was referred for a dental evaluation. She was diagnosed with LADD syndrome based on her clinical picture. (J Dent Child 2019;86(1):53-60)
Received August 16, 2018; Last Revision November 8, 2018; Accepted November 9, 2018.


Assuntos
Anormalidades Múltiplas , Anodontia , Perda Auditiva , Doenças do Aparelho Lacrimal , Sindactilia , Anormalidades Dentárias , Anormalidades Múltiplas/diagnóstico , Adolescente , Anodontia/complicações , Feminino , Perda Auditiva/complicações , Perda Auditiva/diagnóstico , Humanos , Doenças do Aparelho Lacrimal/complicações , Doenças do Aparelho Lacrimal/diagnóstico , Sindactilia/complicações , Sindactilia/diagnóstico , Anormalidades Dentárias/complicações , Anormalidades Dentárias/diagnóstico
7.
JAAPA ; 32(4): 32-37, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30913147

RESUMO

Although congenital hand anomalies associated with finger nubbins may be produced by amniotic band disruption sequence (ABDS), symbrachydactyly should be considered in the differential diagnosis. ABDS usually affects more than one limb but symbrachydactyly largely is limited to one upper extremity, and has five distinct clinical presentations: short-fingered, atypical cleft, monodactylous, peromelic, and a forearm proximal transverse deficiency. This article discusses the diagnosis of symbrachydactyly compared with ABDS and outlines plans for managing patients with symbrachydactyly.


Assuntos
Síndrome de Bandas Amnióticas , Dedos/anormalidades , Sindactilia/diagnóstico , Dedos do Pé/anormalidades , Feminino , Deformidades Congênitas da Mão/classificação , Humanos , Lactente , Radiografia , Sindactilia/etiologia , Sindactilia/patologia , Sindactilia/cirurgia
9.
J Glaucoma ; 28(4): 357-362, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30628995

RESUMO

PURPOSE: We aimed to present a comprehensive assessment of the ophthalmic characteristics of genetically confirmed oculodentodigital dysplasia (ODDD) in 4 members of a single Korean family across 3 generations. PATIENTS AND METHODS: The characteristics of 4 affected ODDD patients were evaluated. Comprehensive ophthalmic and medical examinations were performed in 3 patients including the proband, together with genetic analysis, and retrospective chart review was conducted for an affected ancestor. For genetic analysis, targeted gene panel sequencing was conducted using genomic DNA extracted from peripheral blood. RESULTS: All affected individuals in this family showed shared ophthalmic abnormalities of microcornea, microphthalmia, elevated intraocular pressure, and shallow anterior chamber, all of which have been reported as typical ocular features of ODDD. Myopic refractive error despite short axial length and thick cornea were highlighted as new findings of ODDD. Facial abnormalities were common in all affected members, but their fingers were normal. Severity of glaucoma was different among the affected individuals and seemed to depend on elevation of intraocular pressure, which occurred in narrow, but open-angle. Genetic analysis revealed the presence of c.119C>T (p.Ala40Val) in GJA1, which is responsible for ODDD, but not found in the control population. CONCLUSIONS: This report describes detailed ocular characteristics in a genetically confirmed ODDD family, including unreported findings of thick cornea and myopic refractive error despite short axial length. The ocular features derived from the A40V mutation in GJA1 showed complete penetrance, suggesting a possible role of Cx43 in regulation of IOP and pathogenesis of glaucoma.


Assuntos
Conexina 43/genética , Córnea/anormalidades , Anormalidades Craniofaciais/genética , Anormalidades do Olho/genética , Deformidades Congênitas do Pé/genética , Glaucoma/genética , Microftalmia/genética , Mutação de Sentido Incorreto , Sindactilia/genética , Anormalidades Dentárias/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Criança , Anormalidades Craniofaciais/diagnóstico , Anormalidades do Olho/diagnóstico , Feminino , Deformidades Congênitas do Pé/diagnóstico , Humanos , Pressão Intraocular , Masculino , República da Coreia/epidemiologia , Estudos Retrospectivos , Sindactilia/diagnóstico , Anormalidades Dentárias/diagnóstico
14.
JACC Clin Electrophysiol ; 4(4): 459-466, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-30067485

RESUMO

OBJECTIVES: The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudden death in an international cohort of Timothy Syndrome (TS) patients including those with novel TS-associated CACNA1C mutations. BACKGROUND: TS is an extremely rare genetic disorder of the L-type cardiac channel Cav1.2 encoded by CACNA1C. The syndrome is characterized by multisystem abnormalities consisting of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism, and neurological symptoms. METHODS: Patients diagnosed with TS between January 1, 1994, and April 1, 2016, from 12 international tertiary care pediatric centers were included in this retrospective study. Data were gathered via survey from the patients' electrophysiologists. RESULTS: Seventeen patients diagnosed with TS were identified. Length of follow-up was 4.9 years (range 3.0 to 19.0 years). Mean QTc was 640 ms (range 500 to 976 ms). All patients were treated with beta-blockers; 13 patients (76%) were also treated with an implantable defibrillator. Eleven patients experienced an episode of aborted cardiac arrest, 6 associated with general anesthesia and 2 with hypoglycemia. Four patients died suddenly due to ventricular fibrillation, 2 of whom had associated hypoglycemia. CONCLUSIONS: This study shows that mortality in TS patients is due to multifactorial mechanisms, which include ventricular arrhythmias, pulseless electrical activity, and hypoglycemia. A simple nomenclature for ongoing studies of TS and related syndromes is described. A worldwide prospective registry is needed for continued exploration of this syndrome.


Assuntos
Transtorno Autístico , Síndrome do QT Longo , Sindactilia , Adolescente , Adulto , Antiarrítmicos/uso terapêutico , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Transtorno Autístico/mortalidade , Transtorno Autístico/terapia , Criança , Pré-Escolar , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Eletrocardiografia , Feminino , Humanos , Hipoglicemia , Lactente , Recém-Nascido , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/epidemiologia , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Sindactilia/diagnóstico , Sindactilia/epidemiologia , Sindactilia/mortalidade , Sindactilia/terapia , Fibrilação Ventricular , Adulto Jovem
17.
Indian J Ophthalmol ; 66(2): 334-336, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29380799

RESUMO

Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.


Assuntos
Anormalidades Múltiplas , Conexina 43/genética , Anormalidades Craniofaciais/diagnóstico , DNA/genética , Anormalidades do Olho/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Microftalmia/diagnóstico , Sindactilia/diagnóstico , Anormalidades Dentárias/diagnóstico , Adulto , Conexina 43/metabolismo , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/metabolismo , Análise Mutacional de DNA , Anormalidades do Olho/genética , Anormalidades do Olho/metabolismo , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/metabolismo , Humanos , Masculino , Microftalmia/genética , Microftalmia/metabolismo , Sindactilia/genética , Sindactilia/metabolismo , Tomografia de Coerência Óptica , Anormalidades Dentárias/genética , Anormalidades Dentárias/metabolismo
18.
J Hand Surg Am ; 43(2): 186.e1-186.e16, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29033291

RESUMO

PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. METHODS: A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. RESULTS: One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. CONCLUSIONS: Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. CLINICAL RELEVANCE: Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies.


Assuntos
Síndrome de Poland/diagnóstico , Anormalidades Múltiplas/diagnóstico , Diagnóstico Diferencial , Humanos , Músculos Peitorais/anormalidades , Fenótipo , Sindactilia/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico
19.
Ann Lab Med ; 38(1): 54-58, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29071820

RESUMO

Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%). Among the LQTS-related genes, we detected a previously reported pathogenic variant, CACNA1C c.1552C>T, responsible for cardiac-only Timothy syndrome. Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. Comprehensive screening of genetic variants using multigene panel sequencing enables detection of genetic variants with a possible involvement in QTc interval prolongation, thus uncovering unknown molecular mechanisms underlying LQTS.


Assuntos
Canal de Potássio ERG1/genética , Canal de Potássio KCNQ1/genética , Síndrome do QT Longo/diagnóstico , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Adolescente , Adulto , Transtorno Autístico/diagnóstico , Transtorno Autístico/genética , Canais de Cálcio Tipo L/genética , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Criança , Pré-Escolar , Eletrocardiografia , Testes Genéticos , Variação Genética , Humanos , Lactente , Síndrome do QT Longo/genética , Polimorfismo de Nucleotídeo Único , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Sindactilia/diagnóstico , Sindactilia/genética , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/genética , Fatores de Transcrição/genética , Adulto Jovem
20.
Am J Med Genet A ; 173(12): 3226-3230, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29088509

RESUMO

The STAR syndrome is a rare X-linked dominant developmental disorder caused by point mutations in the single FAM58A gene or deletions involving FAM58A and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130 kb deletion at Xq28, including the FAM58A gene. She presented with cleft lip palate, omphalocele, and cerebral malformations not previously considered part of the phenotypic spectrum of this syndrome. She died at 6 weeks from respiratory failure.


Assuntos
Canal Anal/anormalidades , Fissura Palatina/genética , Ciclinas/genética , Hipertelorismo/genética , Rim/anormalidades , Sindactilia/genética , Dedos do Pé/anormalidades , Anormalidades Urogenitais/genética , Canal Anal/patologia , Bandeamento Cromossômico , Fissura Palatina/diagnóstico , Fissura Palatina/patologia , Evolução Fatal , Feminino , Humanos , Hipertelorismo/diagnóstico , Hipertelorismo/patologia , Recém-Nascido , Cariotipagem , Rim/patologia , Mutação Puntual , Sindactilia/diagnóstico , Sindactilia/patologia , Dedos do Pé/patologia , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/patologia
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