Assuntos
Deleção de Genes , Síndrome de Langer-Giedion/genética , Doenças Vaginais/genética , Constrição Patológica/genética , Constrição Patológica/patologia , Feminino , Hematometra/genética , Hematometra/patologia , Humanos , Síndrome de Langer-Giedion/patologia , Doenças Vaginais/patologia , Adulto JovemRESUMO
Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist. In a number of instances, the disease has a genetic etiology. This article reports the clinical and cytogenetic findings associated with Madelung deformity in 14 patients. Results indicate Madelung anomaly often is associated with additional clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations.
Assuntos
Deformidades Congênitas das Extremidades Superiores/patologia , Punho/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Análise Citogenética , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/complicações , Osteocondrodisplasias/cirurgia , Radiografia , Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/diagnóstico por imagem , Síndrome , Ulna/anormalidades , Ulna/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/etiologia , Deformidades Congênitas das Extremidades Superiores/genética , Punho/diagnóstico por imagem , Articulação do Punho/anormalidades , Articulação do Punho/diagnóstico por imagemRESUMO
The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease.