Cervical spine malformation in cornelia de lange syndrome: a report of three patients.
Am J Med Genet A
; 164A(6): 1520-4, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-24668777
ABSTRACT
Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Vértebras Cervicais
/
Síndrome de Cornélia de Lange
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Deformidades Congênitas das Extremidades Superiores
Limite:
Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Itália