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
Dans Anglais
| 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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Indice:
Méditerranée orientale
Sujet Principal:
Phénotype
/
Hypoplasie dermique en aires
/
Anomalies morphologiques congénitales des membres
/
Maladies génétiques liées au chromosome X
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Femelle
/
Humains
/
Bébé
langue:
Anglais
Texte intégral:
J. Coll. Physicians Surg. Pak.
Année:
2010
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