RT Journal Article
SR Electronic
T1 Megalocornea-mental retardation syndrome: report of a new case.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 882
OP 883
DO 10.1136/jmg.33.10.882
VO 33
IS 10
A1 Barisić, I
A1 Ligutić, I
A1 Zergollern, L
YR 1996
UL http://jmg.bmj.com/content/33/10/882.abstract
AB Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.