Short stature/dwarfism, mental retardation, severe
myopia, iris hypoplasia, cataracts, and increased body hair.
Dwarfism, Mental Retardation, and Eye Abnormality.
Only three cases described. The
mode of inheritance is uncertain but most probably autosomal recessive.
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.
Usually the microcephaly does not lead
to airway difficulties.
Rodrigues Blindness: Severe mental retardation and ocular
malformations including microphthalmos, short stature, dysmorphic facial
features (narrow nasal bridge, prominent ears), and malaligned teeth.
CAHMR Syndrome: Hypertrichosis, most often in the face and
shoulders. Individuals affected have congenital lamellar cataracts.
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