Frontonasal dysplasia in two successive generations
Am J Med Genet
; 46(6): 712-4,
Artigo
em Inglês
| MedCarib
| ID: med-15454
Biblioteca responsável:
JM3.1
ABSTRACT
Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonasal dysplasia. The mother has extremely mild expression, but her brother and 2 sons are more severely affected. Besides polydactyly no other birth defects were noted in any other relatives. The pedigree is consistent with autosomal or X-linked dominant inheritance. A descriptive of each patient is presented along with a discussion of the genetic counseling issues and review of the literature for other possibly familial cases of frontonasal dysplasia. (AU)
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Coleções:
Bases de dados internacionais
Base de dados:
MedCarib
Assunto principal:
Nariz
/
Face
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Am J Med Genet
Tipo de documento:
Artigo