Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).
J Coll Physicians Surg Pak
; 20(11): 770-2, 2010 Nov.
Article
en En
| MEDLINE
| ID: mdl-21078256
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hipoplasia Dérmica Focal
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
J Coll Physicians Surg Pak
Asunto de la revista:
MEDICINA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Austria