Megalocornea, macrocephaly, mental and motor retardation (MMMM).
Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. These two patients resemble a previously reported case, and although there are distinct differences from patients with familial or sporadic Neuhauser syndrome, these cases may represent clinical variability of that syndrome.
Frydman
M
M
Department of Pediatrics, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel.
Berkenstadt
M
M
Raas-Rothschild
A
A
Goodman
R M
RM
D000293:Adolescent; D000869:Anterior Eye Segment / Q000002:abnormalities; D002648:Child; D003315:Cornea / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome