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Short stature/dwarfism, mental retardation, severe myopia, iris hypoplasia, cataracts, and increased body hair.

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Dwarfism, Mental Retardation, and Eye Abnormality.

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Only three cases described. The mode of inheritance is uncertain but most probably autosomal recessive.

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Short stature/dwarfism, mental retardation, microcephaly, and ocular abnormalities, including iris hypoplasia, nuclear cataracts, and severe myopia. The related syndromes are listed, but review showed overlapping manifestations. Increased body hair.

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Usually the microcephaly does not lead to airway difficulties.

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Rodrigues Blindness: Severe mental retardation and ocular malformations including microphthalmos, short stature, dysmorphic facial features (narrow nasal bridge, prominent ears), and malaligned teeth.

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CAHMR Syndrome: Hypertrichosis, most often in the face and shoulders. Individuals affected have congenital lamellar cataracts.

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Martsolf Syndrome (Cataract, Mental Retardation, and Hypogonadism Syndrome): Short stature, minor digital and cephalic abnormalities. Microcephaly occasional. One patient reported with cardiomyopathy and another with cardiac failure.

Mollica F, Pavone L, Antener I: Short stature, mental retardation and ocular alterations in three siblings. Helv Paediatr Acta 27:463, 1972.  [PubMed: 4640901]

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