MEGALOCORNEA MENTAL-RETARDATION SYNDROME - REPORT OF A NEW CASE

Authors
BARISIC I LIGUTIC I ZERGOLLERN L
Citation
I. Barisic et al., MEGALOCORNEA MENTAL-RETARDATION SYNDROME - REPORT OF A NEW CASE, Journal of Medical Genetics, 33(10), 1996, pp. 882-883
Citations number
4
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
33
Issue
10
Year of publication
1996
Pages
882 - 883
Database
ISI
SICI code
0022-2593(1996)33:10<882:MMS-RO>2.0.ZU;2-C
Abstract
Megalocornea-mental retardation syndrome (MMR) is a rare autosomal rec essive disorder presenting with megalocornea, mental and motor retarda tion, hypotonia, seizures, short stature, and characteristic dysmorphi c traits (MIM 249310). We present a new case in order to delineate wit h more accuracy the typical phenotype.