Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype

Authors
Kennedy, SJ Lee, KJ McCrindle, BW Teebi, AS
Citation
Sj. Kennedy et al., Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype, J MED GENET, 36(11), 1999, pp. 854-855
Citations number
6
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
11
Year of publication
1999
Pages
854 - 855
Database
ISI
SICI code
0022-2593(199911)36:11<854:MSCOTP>2.0.ZU;2-V
Abstract
We report a 9 year old girl with microcephaly and self-limiting dilated car diomyopathy. Additional features include mental retardation, delayed develo pmental milestones, and minor dysmorphic features. This is the second repor ted case of this phenotype, which is believed to be a new autosomal recessi ve syndrome.