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  • Title: Short stature, mental retardation, eye anomalies, and cleft lip/palate.
    Author: Richieri-Costa A, Guion-Almeida ML.
    Journal: Am J Med Genet; 1992 Feb 15; 42(4):449-52. PubMed ID: 1609826.
    Abstract:
    The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
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