SCHIMKE IMMUNO-OSSEOUS DYSPLASIA - CASE-REPORT AND REVIEW

Authors
LUDMAN MD COLE DEC CROCKER JFS COHEN MM
Citation
Md. Ludman et al., SCHIMKE IMMUNO-OSSEOUS DYSPLASIA - CASE-REPORT AND REVIEW, American journal of medical genetics, 47(5), 1993, pp. 793-796
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
47
Issue
5
Year of publication
1993
Pages
793 - 796
Database
ISI
SICI code
0148-7299(1993)47:5<793:SID-CA>2.0.ZU;2-U
Abstract
We report on a patient with Schimke immunoosseous dysplasia, an autoso mal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, sign s of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thromboc ytopenia and microdontia. (C) 1993 Wiley-Liss, Inc.