VARIABLE PHENOTYPE IN KAUFMAN-MCKUSICK-SYNDROME - REPORT OF AN INBREDMUSLIM FAMILY AND REVIEW OF THE LITERATURE

Authors
KUMAR D PRIMHAK RA KUMAR A
Citation
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
Citations number
23
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
7
Issue
3
Year of publication
1998
Pages
163 - 170
Database
ISI
SICI code
0962-8827(1998)7:3<163:VPIK-R>2.0.ZU;2-A
Abstract
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.