Two sisters with Toriello-Carey syndrome.
Am J Med Genet
; 87(3): 262-4, 1999 Nov 26.
Article
em En
| MEDLINE
| ID: mdl-10564882
ABSTRACT
Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as severe as reported male cases. The younger sister died suddenly at age 4 months. Our patients with a severe phenotype and possible parental consanguinity suggest autosomal recessive inheritance of Toriello-Carey syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tetralogia de Fallot
/
Anormalidades Múltiplas
/
Face
/
Agenesia do Corpo Caloso
/
Deficiência Intelectual
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Japão