New syndrome of mental retardation, Robin sequence, and brachydactyly.
We report on two sibs, brother and sister, affected with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome, characterized by mild to moderate psychomotor delay, Robin sequence, peculiar facial appearance, and brachydactyly. To our knowledge, this combination of anomalies has not been reported previously. The occurrence of a similar pattern of anomalies in brother and sister suggests autosomal recessive inheritance; however, dominant transmission with reduced penetrance cannot be ruled out in our patients, since minor clinical signs, such as brachydactyly, are also present in the father.
Gurrieri
F
F
Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Rome, Italy. fgurrieri@rm.unicatt.it
Steindl
K
K
Giglio
S
S
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D010855:Pierre Robin Syndrome / Q000473:pathology*; D013577:Syndrome