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