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New case of the Richieri-Costa/Guion-Almeida syndrome

✍ Scribed by Natacci, F.; Pierri, M.; Rossetti, M.; Sala, M.; Larizza, L.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 12 KB
Volume: 83
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990423)83:5<419::aid-ajmg15>3.0.co;2-l

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✦ Synopsis

We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/ palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity. Am.

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