Abstract |
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.
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Authors | Eliane Chouery, Claire Guissart, Hala Mégarbané, Bernard Aral, Charbel Nassif, Christel Thauvin-Robinet, Laurence Faivre, André Mégarbané |
Journal | European journal of medical genetics
(Eur J Med Genet)
Vol. 56
Issue 12
Pg. 674-7
(Dec 2013)
ISSN: 1878-0849 [Electronic] Netherlands |
PMID | 24095818
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | Copyright © 2013 Elsevier Masson SAS. All rights reserved. |
Chemical References |
- Cell Cycle Proteins
- MCM5 protein, human
- RECQL4 protein, human
- RecQ Helicases
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Topics |
- Anal Canal
(abnormalities)
- Cell Cycle Proteins
(genetics)
- Child, Preschool
- Craniosynostoses
(diagnosis, genetics)
- Digestive System Abnormalities
(diagnosis, genetics)
- Female
- Humans
- Infant
- Porokeratosis
(diagnosis, genetics)
- RecQ Helicases
(genetics)
- Siblings
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