MESOMELIC LIMB SHORTNESS - A PREVIOUSLY UNREPORTED AUTOSOMAL RECESSIVE TYPE

Authors
REARDON W HALL CM SLANEY S HUSON SM CONNELL J ALHILALY N FIXSEN J BARAITSER M WINTER RM
Citation
W. Reardon et al., MESOMELIC LIMB SHORTNESS - A PREVIOUSLY UNREPORTED AUTOSOMAL RECESSIVE TYPE, American journal of medical genetics, 47(5), 1993, pp. 788-792
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
47
Issue
5
Year of publication
1993
Pages
788 - 792
Database
ISI
SICI code
0148-7299(1993)47:5<788:MLS-AP>2.0.ZU;2-4
Abstract
We report on sibs, the offspring of a consanguineous mating, whose mes omelic shortness and bowing of limbs with associated skin dimpling, re trognathia, mandibular hypoplasia, cleft palate, and camptodactyly rep resents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known dia gnostic possibilities. (C) 1993 Wiley-Liss, Inc.