Split hand/split foot deformity with focal dermal hypoplasia [Goltz syndrome]
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2010; 20 (11): 770-772
em Inglês
| IMEMR
| ID: emr-117638
ABSTRACT
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Fenótipo
/
Hipoplasia Dérmica Focal
/
Deformidades Congênitas dos Membros
/
Doenças Genéticas Ligadas ao Cromossomo X
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2010
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