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
en Inglés
| 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 (Mediterraneo Oriental)
Asunto principal:
Fenotipo
/
Hipoplasia Dérmica Focal
/
Deformidades Congénitas de las Extremidades
/
Enfermedades Genéticas Ligadas al Cromosoma X
Tipo de estudio:
Informe de Casos
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Inglés
Revista:
J. Coll. Physicians Surg. Pak.
Año:
2010
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