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
in English
| 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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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Phenotype
/
Focal Dermal Hypoplasia
/
Limb Deformities, Congenital
/
Genetic Diseases, X-Linked
Type of study:
Case report
Limits:
Female
/
Humans
/
Infant
Language:
English
Journal:
J. Coll. Physicians Surg. Pak.
Year:
2010
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