Coffin–Siris syndrome with multiple congenital malformations and intrauterine death: Towards a better delineation of the severe end of the spectrum

Abstract Coffin–Siris syndrome or “fifth digit” syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain...

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Bibliographic Details
Published in:European journal of medical genetics 2010-09, Vol.53 (5), p.318-321
Main Authors: Coulibaly, Béma, Sigaudy, Sabine, Girard, Nadine, Popovici, Cornel, Missirian, Chantal, Heckenroth, Hélène, Tasei, Anne-Marie, Fernandez, Carla
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Acrocallosal Syndrome - genetics
Array-CGH
Brain malformation
Coffin–Siris syndrome
Comparative Genomic Hybridization
Corpus callosum agenesis
Dandy Walker
Dandy-Walker Syndrome - genetics
Face - abnormalities
Hand Deformities, Congenital - genetics
Humans
Infant
Intellectual Disability - genetics
Intrauterine death
Karyotyping
Male
Medical Education
Micrognathism - genetics
Neck - abnormalities
Stillbirth
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Summary:Abstract Coffin–Siris syndrome or “fifth digit” syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffin–Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.07.005