K. Kozlowski et M. Krajewska, MENTAL-RETARDATION, POSTAXIAL POLYDACTYLY, PHALANGEAL HYPOPLASIA, 2-3TOE SYNDACTYLY, UNUSUAL FACE, UNCOMBABLE HAIR - NEW SYNDROME, American journal of medical genetics, 68(2), 1997, pp. 142-146
We report on a boy with unique somatic and skeletal manifestations. Th
e syndrome consists of mental retardation, postaxial polydactyly, phal
angeal hypoplasia, 2-3 toe syndactyly, abnormal face and uncombable ha
ir. A younger sib who died soon after the birth was probably also affe
cted. (C) 1997 Wiley-Liss, Inc.