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Genetically transmitted polymalformative syndrome characterized by cataract, mental retardation, anal atresia, and urinary defects.

Exact incidence unknown. Autosomal recessive inheritance.

Some degree of mental retardation is usually present. Ocular abnormalities include nystagmus, ocular muscle paresis, and cataracts. Imperforate anus is common. Tetralogy of Fallot may be present. No information is available regarding other forms of congenital heart disease. The palate may be high and narrow. Genitourinary abnormalities include ectopic testes and hypospadias.

Considerations related to congenital heart disease and tetralogy of Fallot in particular: degree of palliation/correction, current myocardial function and medications. An abnormally shaped palate could affect ease of intubation. Patient cooperation may be limited secondary to mental retardation. Sedative and/or anxiolytic premedication and presence of the primary caregiver for induction of anesthesia may be helpful.

Subacute bacterial endocarditis prophylaxis may be indicated.

Karandikar S, Maria D, Kamble B: Congenital cataract with multiple congenital anomalies in a sibship. Indian J Ophthalmol 27:59, 1979.  [PubMed: 541035]

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