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
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Vértebras Cervicales
/
Síndrome de Cornelia de Lange
/
Deformidades Congénitas de las Extremidades Superiores
Límite:
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Italia