Oral-facial-digital syndrome type I in a newborn male.
Am J Med Genet
; 46(3): 335-8, 1993 May 15.
Article
em En
| MEDLINE
| ID: mdl-8488880
ABSTRACT
We report on a newborn male, born at term with clinical manifestations of oral-facial-digital (OFD) syndrome type I. This syndrome is generally assumed to be inherited in an X-linked dominant fashion with lethality in males. Therefore, liveborn males are exceptional. This liveborn male also had Dandy-Walker malformation and polycystic kidneys. From a general point of view, distinction between the 8 types of OFD syndromes described so far appears subtle and considerable overlap exists between them. In this regard, it should be noted that polycystic kidneys different from adult polycystic kidney disease both macroscopically and microscopically are a frequent manifestation of OFD I.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Orofaciodigitais
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1993
Tipo de documento:
Article