PT  - JOURNAL ARTICLE
AU  - Barisić, I
AU  - Ligutić, I
AU  - Zergollern, L
TI  - Megalocornea-mental retardation syndrome: report of a new case.
AID  - 10.1136/jmg.33.10.882
DP  - 1996 Oct 01
TA  - Journal of Medical Genetics
PG  - 882--883
VI  - 33
IP  - 10
4099  - http://jmg.bmj.com/content/33/10/882.short
4100  - http://jmg.bmj.com/content/33/10/882.full
SO  - J Med Genet1996 Oct 01; 33
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.