Verloes-Gillerot-Fryns Syndrome

This syndrome has been reported in only three patients. In 1990, Verloes et al. described two 46,XY sibs with undescribed multiple congenital anomaly/mental retardation syndrome. One patient had profound mental retardation while the other was slightly retarded. In addition, the first patient had short stature, coarse facial features with deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Müllerian structures, and low gonadotrophin levels. The other XY patient was raised as a girl with similar features and had a history of removal of intra-abdominal gonad during infancy (Verloes et al. 1990). De Die-Smulders et al. reported the third case in an adult male with similar features to the previous cases and also with ocular colobomata, hyperkyphosis, and thoracic deformity (de Die-Smulders et al. 1994).