Classical lissencephaly associated with dolichocephaly, hair and nail defect.
Brain Dev
; 28(6): 392-4, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16376045
ABSTRACT
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Crânio
/
Encefalopatias
/
Córtex Cerebral
/
Doenças do Cabelo
/
Doenças da Unha
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Itália