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Extremely rare syndrome with mental retardation, hypertrichosis, and cataract. CAHMR is an acronym that stands for cataract, hypertrichosis, and mental retardation.

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Two cases in one family (a boy and a girl) have been described. Inheritance is considered autosomal recessive, given that the parents of the two patients were healthy first cousins.

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Both children had congenital lamellar cataracts, a narrow and high arched palate, and generalized hypertrichosis, predominately affecting the back, shoulders, and sides of the face. Other reported features include microdontia, pectus excavatum, and mental retardation.

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Expect tracheal intubation to be difficult secondary to the narrow, high arched palate. Depending on the degree of pectus excavatum, pulmonary and cardiac function may be affected. In order to obtain a good signal on the electrocardiogram, the skin in the area where the electrodes are placed may require shaving. To prevent skin burns, the same applies for the electrocautery plate.

Temtamy SA, Sinbawy AH: Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome. Am J Med Genet 41:432, 1991.  [PubMed: 1776632]

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