Cervical spine malformation in cornelia de lange syndrome: A report of three patients

被引：6
|
作者：
Bettini, Laura Rachele [1 ]
Locatelli, Laura [1 ]
Mariani, Milena [1 ]
Cianci, Paola [1 ]
Giussani, Carlo [2 ]
Canonico, Francesco [3 ]
Cereda, Anna [1 ]
Russo, Silvia [4 ]
Gervasini, Cristina [5 ]
Biondi, Andrea [1 ]
Selicorni, Angelo [1 ]
机构：
[1] San Gerardo Hosp, Pediat Genet Unit, Monza Brianza Bambino & Sua Mamma MBBM Fdn, Dept Pediat, Monza, Italy
[2] Univ Milano Bicocca, Neurosci & Biomed Technol Dept, Neurosurg Unit, San Gerardo Hosp, Monza, Italy
[3] San Gerardo Hosp, Neuroimaging Unit, Monza, Italy
[4] IRCCS, Mol Genet & Cytogenet Lab, Milan, Italy
[5] Univ Milan, Dept Hlth Sci, San Paolo Hosp, Milan, Italy
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 06期
关键词：
cornelia de lange syndrome; cervical spine malformation; NIPBL; BRACHMANN-DELANGE SYNDROME; NIPPED-B; INDIVIDUALS; MUTATIONS; MANIFESTATIONS; DROSOPHILA; ANOMALIES; COHESIN; HOMOLOG; NIPBL;
D O I：
10.1002/ajmg.a.36457
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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. (c) 2014 Wiley Periodicals, Inc.
引用
收藏
页码：1520 / 1524
页数：5
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