Autosomal dominant inheritance in Setleis syndrome.
Am J Med Genet
; 57(1): 57-60, 1995 May 22.
Article
em En
| MEDLINE
| ID: mdl-7645599
ABSTRACT
Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9-month-old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father-to-son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Pestanas
/
Face
/
Genes Dominantes
Limite:
Adult
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Japão