New syndrome of mental retardation, Robin sequence, and brachydactyly |
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Authors: | Gurrieri F Steindl K Giglio S Neri G |
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Affiliation: | Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Rome, Italy. fgurrieri@rm.unicatt.it |
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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. |
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