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Aplasia cutis congenita associated with Goltz syndrome in a male neonate,
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Auteur(s): K. NAGALO
Auteur(s) tagués: NAGALO Kisito
Renseignée par : NAGALO Kisito
Résumé

Apiasia r'uti's congeni/a associated with Gall: syndrome in a male neonate: Here we report the association of giant aplasia cutis congenita in a iiewbom black male with Goltz syndrome The culis aplaSia defect is extensive'and eirconseript at the vertex. The cerebral structures are visible through the lesions, in addition. the patient has a low birth weight. syndactyly, adaetyly, cutaneous atrophy. and areas ot 'hyperpigmentation on the legs and hypoplastic maxillary. We think that these Signs are probably due to mosaic mutations in PORCN. We reviewed 18 cases of (joltz syndrome in 18 male neonates but none has aplasia eutis congenital Such a combination of severe aplasia cutis congeniia was not reported previously in (on12 syndrome.

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