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At a glance

It is a medical condition characterized by short stature/dwarfism, mental retardation, severe myopia, iris hypoplasia, cataracts, and increased body hair.

Synonym

Dwarfism, Mental Retardation, Eye Abnormality Syndrome.

Incidence

There are only three cases described in the medical literature.

Genetic inheritance

The mode of inheritance is uncertain, but most probably inherited as an autosomal recessive trait.

Clinical aspects

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

Usually the microcephaly does not lead to airway difficulties or other direct considerations. The association with another underlying condition may carry its own set of anesthesia considerations.

Other conditions to be considered

  • 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: An acronym that stands for “CAtaract, Hypertrichosis, Mental Retardation” and clinically characterized by hypertrichosis, most often in the face and shoulders. Individuals affected have congenital lamellar cataracts.

  • Martsolf Syndrome (Cataract, Mental Retardation, and Hypogonadism Syndrome): Characterized by short stature, minor digital and cephalic abnormalities. The presence of microcephaly is occasional. There is the report of one patient presenting with cardiomyopathy.

References

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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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