Short stature, mental retardation, eye anomalies, and cleft lip/palate. |
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Authors: | A Richieri-Costa M L Guion-Almeida |
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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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