Giacomo Cherchi
New syndrome of mental retardation, Robin sequence, and brachydactyly
GIGLIO, SABRINA RITA;
2001-01-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.