ROBINOW SYNDROME WITH DEAFNESS

Background. Robinow mesomelic dysplasia is an autosomal dominant or re cessive condition that results is a flat facial profile, mesomelic sho rtening and frequent genital hypoplasia. This report describes a case with bilateral deafness. Case report. A boy was born at term to consan guineous parents who have no morphological abnormalities. The child's older brother and sister are normal. The patient was admitted at the a ge of 5 months because of abnormal features: enlarged skull with promi nent forehead, flat facial profile, hypertelorism, small chin, shorten ing in the mesomelic segments of the limbs and genital hypoplasia with out cryptorchidism. X-rays confirmed the mesomelic shortening and show ed radial head dislocation and vertebral abnormalities. These abnormal ities were more evident at the age of 2 1/2 years, when a bilateral se nsorineural hearing loss was detected. Conclusion. This case of Robino w has all the characteristic findings plus deafness. The parental cons anguinity suggests that its inheritance is autosomal recessive.