Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face.
We report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with obtuse mandibular angle, maxillary hypoplasia with beaking of the nose, aortic root dilatation, and mitral valve prolapse. This combination of findings has not been reported previously.
Stratton
R F
RF
South Texas Genetics Center, San Antonio 78229.
Garcia
P R
PR
Young
R S
RS
Jorgenson
R J
RJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001011:Aorta / Q000473:pathology; D001132:Arm / Q000002:abnormalities; D004108:Dilatation, Pathologic / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008945:Mitral Valve Prolapse / Q000235:genetics; D013577:Syndrome