Autosomal recessive syndrome of growth and mental retardation,seizures, retinal abnormalities,and osteodysplasia with similarity to the Gurrieri syndrome

We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in both patients and seem to be consistent with the phenotype of the Gurrieri syndrome. The new features described in these sibs could expand the clinical spectrum of the Gurrieri syndrome and confirm the existence of this rare autosomal recessive condition. Am. J. Med. Genet. 82:84–87, 1999. © 1999 Wiley-Liss, Inc.