Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair: new syndrome?

Authors :: Kozlowski K
Krajewska M
Source :: American journal of medical genetics [Am J Med Genet] 1997 Jan 20; Vol. 68 (2), pp. 142-6.
Publication Year :: 1997
Abstract: We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, abnormal face and uncombable hair. A younger sib who died soon after the birth was probably also affected.

Subjects :: Adolescent
Bone and Bones abnormalities
Bone and Bones diagnostic imaging
Hair ultrastructure
Humans
Intellectual Disability complications
Male
Microscopy, Electron, Scanning
Polydactyly complications
Radiography
Syndactyly complications
Face abnormalities
Fingers abnormalities
Hair abnormalities
Intellectual Disability diagnosis
Polydactyly diagnosis
Syndactyly diagnosis
Syndrome

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