BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA WITH DISTINCTIVE PHENOTYPE AND NORMAL KARYOTYPE

Authors
ZIZKA J CHARVAT J BAXOVA A BALICEK P KOZLOWSKI K
Citation
J. Zizka et al., BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA WITH DISTINCTIVE PHENOTYPE AND NORMAL KARYOTYPE, American journal of medical genetics, 76(3), 1998, pp. 213-216
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
76
Issue
3
Year of publication
1998
Pages
213 - 216
Database
ISI
SICI code
0148-7299(1998)76:3<213:BCPWDP>2.0.ZU;2-R
Abstract
We present two sibs with a distinctive phenotype and with stippled cal cifications of the tarsal bones and sacro-coccygeal spine. They repres ent an apparently ''new'' form of chondrodysplasia punctata. (C) 1998. (C) 1998 Wiley-Liss, Inc.