Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.
Kapur
S
S
Department of Pediatrics and Human Development, Michigan State University, East Lansing 48824-1317.
Toriello
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HV
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome