| Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum. | |
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MedLine Citation:
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PMID: 20624500 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Coffine-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 Coffine-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%. |
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Authors:
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Béma Coulibaly; Sabine Sigaudy; Nadine Girard; Cornel Popovici; Chantal Missirian; Hélène Heckenroth; Anne-Marie Tasei; Carla Fernandez |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-07-30 |
Journal Detail:
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Title: European journal of medical genetics Volume: 53 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2010 Sep-Oct |
Date Detail:
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Created Date: 2010-09-27 Completed Date: 2011-01-11 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 318-21 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Laboratoire d'Anatomie Pathologique et Neuropathologie, Assistance Publique-Hôpitaux de Marseille, Hôpital la Timone, Marseille, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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genetics Acrocallosal Syndrome / genetics Comparative Genomic Hybridization Dandy-Walker Syndrome / genetics Face / abnormalities Hand Deformities, Congenital* / genetics Humans Infant Intellectual Disability* / genetics Karyotyping Male Micrognathism* / genetics Neck / abnormalities Stillbirth |
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