Kaufman's syndrome II
A familial syndrome marked by mental and physical retardation, mongoloid palpebral slant, microcornea, microcephaly, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags, hypertelorism, eyebrows sparse and brooding laterally, lordosis, myopia, congenital hypotonia, respiratory distress, constipation, flat feet and small mandible. Present from birth. Transmitted as an autosomal recessive trait
It is found in the Lancaster County Amish. Only one patient has all three manifestations and polydactyly is the only marker observed so far in males. Robert L. Kaufman and Stanislava Jurenka, a Canadian paediatrician in Winnipeg, described the first cases.
- R. L. Kaufman, D. L. Rimoin, A.L. Prensky, W.S. Sly:
An oculocerebrofacial syndrome.
Birth Defects Original Article Series, New York, 1971, 7(1): 135-138.
- S. B. Jurenka, J. Evans:
Kaufman oculocerebrofacial syndrome: case report.
American Journal of Medical Genetics, New York, 1979, 3: 15-19.