D. Kumar et al., VARIABLE PHENOTYPE IN KAUFMAN-MCKUSICK-SYNDROME - REPORT OF AN INBREDMUSLIM FAMILY AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 7(3), 1998, pp. 163-170
Multiple congenital anomalies (MCA) in two siblings and digit abnormal
ities in four related individuals from a large highly inbred Muslim fa
mily are described. The pattern of MCA is consistent with the autosoma
l recessive Kaufman-McKusick syndrome [MIM 236700]. The present report
reviews the previously published reports on this uncommon MCA dysmorp
hic syndrome and draws attention to the marked variation in the phenot
ype. Clin Dys 7: 163-170. (C) Lippincott-Raven Publishers.