Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ Short stature/dwarfism, mental retardation, severe myopia, iris hypoplasia, cataracts, and increased body hair. + Synonyms Download Section PDF Listen ++ Dwarfism, Mental Retardation, and Eye Abnormality. + Incidence and Genetic Inheritance Download Section PDF Listen ++ Only three cases described. The mode of inheritance is uncertain but most probably autosomal recessive. + Clinical Aspects Download Section PDF Listen ++ 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. + Anesthetic Considerations Download Section PDF Listen ++ Usually the microcephaly does not lead to airway difficulties. + Other Conditions to Be Considered Download Section PDF Listen ++ 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. + References Download Section PDF Listen ++Mollica F, Pavone L, Antener I: Short stature, mental retardation and ocular alterations in three siblings. Helv Paediatr Acta 27:463, 1972. [PubMed: 4640901]