HOLOPROSENCEPHALY AND PRIMARY CRANIOSYNOSTOSIS - THE GENOA SYNDROME

Citation
G. Camera et al., HOLOPROSENCEPHALY AND PRIMARY CRANIOSYNOSTOSIS - THE GENOA SYNDROME, American journal of medical genetics, 47(8), 1993, pp. 1161-1165
Citations number
6
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
47
Issue
8
Year of publication
1993
Pages
1161 - 1165
Database
ISI
SICI code
0148-7299(1993)47:8<1161:HAPC-T>2.0.ZU;2-I
Abstract
We report on 2 sibs with holoprosencephaly of the semilobar type, unus ual facial appearance not diagnostic of holoprosencephaly, and primary craniosynostosis involving the coronal and lambdoid sutures. The cond ition represents a newly recognized syndrome, possibly having autosoma l recessive inheritance. (C) 1993 Wiley-Liss, Inc.