Aplasia cutis congenita associated with Goltz syndrome in a male neonate.
Genet Couns
; 21(1): 41-7, 2010.
Article
em En
| MEDLINE
| ID: mdl-20420028
ABSTRACT
Here we report the association of giant aplasia cutis congenita in a newborn black male with Goltz syndrome. The cutis aplasia defect is extensive and circonscript at the vertex. The cerebral structures are visible through the lesions. In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, and areas of 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 Goltz syndrome in 18 male neonates but none has aplasia cutis congenita. Such a combination of severe aplasia cutis congenita was not reported previously in Goltz syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
/
Hipoplasia Dérmica Focal
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Male
/
Newborn
País/Região como assunto:
Africa
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Togo