TY - JOUR
T1 - Cervical spine malformation in cornelia de lange syndrome
T2 - A report of three patients
AU - Bettini, Laura Rachele
AU - Locatelli, Laura
AU - Mariani, Milena
AU - Cianci, Paola
AU - Giussani, Carlo
AU - Canonico, Francesco
AU - Cereda, Anna
AU - Russo, Silvia
AU - Gervasini, Cristina
AU - Biondi, Andrea
AU - Selicorni, Angelo
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - Cervical spine malformation
KW - Cornelia de lange syndrome
KW - NIPBL
UR - http://www.scopus.com/inward/record.url?scp=84899974274&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84899974274&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36457
DO - 10.1002/ajmg.a.36457
M3 - Article
C2 - 24668777
AN - SCOPUS:84899974274
VL - 164
SP - 1520
EP - 1524
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 6
ER -