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Short stature,mental retardation,eye anomalies,and cleft lip/palate |
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| Authors: | A. Richieri-Costa M. L. Guion-Almeida |
| 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. |
| Keywords: | Short stature mental retardation coloboma of the iris and retina strabismus nystagmus cleft lip/palate autosomal recessive X-linked recessive inheritance |