New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face.
We have observed a newly recognized syndrome in two unrelated Japanese patients. Manifestations include severe mental retardation, growth failure, generalized floppiness, congenital hydronephrosis, cardiac anomalies, cleft palate, and characteristic face. To date, caused genesis is unknown.
Okamoto
N
N
Department of Planning and Research, Osaka Medical Center, Japan.
Matsumoto
F
F
Shimada
K
K
Satomura
K
K
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital*; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital*; D013577:Syndrome