title: The nosology of Richieri-Costa/Guion-Almeida syndrome(s).
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 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.
authors.affiliation: Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Piero
authors.initials: P
authors.lastname: Cascone
authors.forename: Marco
authors.initials: M
authors.lastname: Brinelli
authors.forename: Giorgio
authors.initials: G
authors.lastname: Iannetti
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000293:Adolescent; D055028:Comparative Genomic Hybridization; D005532:Foot Deformities, Congenital / Q000145:classification / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000145:classification / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000145:classification / Q000473:pathology; D010641:Phenotype