| The nosology of Richieri-Costa/Guion-Almeida syndrome(s). | |
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MedLine Citation:
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PMID: 21271661 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family with a partially overlapping condition in two sisters (Richieri-Costa/Guion-Almeida syndrome type 2, RCGAS2). We report on a sporadic, mentally retarded patient strongly resembling those of the original report of RCGAS1, but lacking some manifestations such as short stature and, possibly, some ocular changes. Results of 200 kb CGH-array study were normal. By comparing the present and previously reported patients with RCGAS1 and 2, we tried to contribute to syndrome delineation and to separate them from conditions with similar facial anomalies. |
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Authors:
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Marco Castori; Piero Cascone; Marco Brinelli; Giorgio Iannetti; Paola Grammatico |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-12-22 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 155A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-28 Completed Date: 2011-05-20 Revised Date: 2011-06-07 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 398-402 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley-Liss, Inc. |
Affiliation:
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Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Comparative Genomic Hybridization Foot Deformities, Congenital / classification, pathology Hand Deformities, Congenital / classification, pathology Humans Male Mandibulofacial Dysostosis / classification, pathology Mental Retardation / genetics, pathology* Phenotype* |
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