1. The nosology of Richieri-Costa/Guion-Almeida syndrome(s).
- Author
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Castori M, Cascone P, Brinelli M, Iannetti G, and Grammatico P
- Subjects
- Adolescent, Comparative Genomic Hybridization, Foot Deformities, Congenital classification, Foot Deformities, Congenital pathology, Hand Deformities, Congenital classification, Hand Deformities, Congenital pathology, Humans, Intellectual Disability genetics, Male, Mandibulofacial Dysostosis classification, Mandibulofacial Dysostosis pathology, Intellectual Disability pathology, Phenotype
- Abstract
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 200âkb 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., (Copyright © 2010 Wiley-Liss, Inc.)
- Published
- 2011
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