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The nosology of Richieri‐Costa/Guion‐Almeida syndrome(s)
Author(s) -
Castori Marco,
Cascone Piero,
Brinelli Marco,
Iannetti Giorgio,
Grammatico Paola
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33805
Subject(s) - microcephaly , nystagmus , ptosis , short stature , anatomy , medicine , audiology , ophthalmology , pediatrics
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. © 2010 Wiley‐Liss, Inc.