Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review

被引：4

作者：

Chouery, Eliane ^{[1
,2
]}

Guissart, Claire ^{[1
,2
]}

Megarbane, Hala ^{[3
]}

Aral, Bernard ^{[4
,5
]}

Nassif, Charbel ^{[6
]}

Thauvin-Robinet, Christel ^{[4
,5
]}

Faivre, Laurence ^{[4
,5
]}

Megarbane, Andre ^{[1
,2
,7
]}

机构：

[1] Univ St Joseph, Unite Genet Med, Fac Med, Beirut, Lebanon

[2] Univ St Joseph, Lab Assoc INSERM UMR S 910, Fac Med, Beirut, Lebanon

[3] Balamand Univ, St George Hosp, Dept Dermatol, Beirut, Lebanon

[4] Hop Enfants, Ctr Genet, Dijon, France

[5] Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France

[6] Hotel Dieu France Beyrouth, Serv ORL, Beirut, Lebanon

[7] Inst Jerome Lejeune, Paris, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 12期

关键词：

CDAGS; Craniosynostosis; Porokeratosis; Abnormal placement of anus; RECQL4; GENE;

D O I：

10.1016/j.ejmg.2013.09.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our knowledge, only four families from different geographic regions and ethnic backgrounds have been reported until now and no molecular defect has been identified. Here we report two sisters presenting with craniosynostosis, microcephaly, short downslanting palpebral fissures, sparse hair, eyelashes, and eyebrows and porokeratosis that appeared at the age of one month. The youngest sister had an imperforate anus with rectoperineal fistula. Array-CGH did not reveal any pathological CNV. Molecular analysis of the c16orf57, RECQL4 and MCM5 genes was normal. (C) 2013 Elsevier Masson SAS. All rights reserved.

引用

页码：674 / 677

页数：4

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