Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
Am J Med Genet
; 83(2): 82-7, 1999 Mar 12.
Article
em En
| MEDLINE
| ID: mdl-10190477
We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Psicomotores
/
Coloboma
/
Microftalmia
/
Genes Recessivos
/
Microcefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Líbano