MOHR-SYNDROME (ORO-FACIAL-DIGITAL-SYNDROME-II) - A FAMILIAL CASE WITHDIFFERENT PHENOTYPIC FINDINGS

We report on two male siblings with an ore-facial-digital syndrome. Th e parents and two other siblings, a boy and a girl, are unaffected. Th e clinical findings on the reported brothers were different. Patient 1 had typical oral, facial and digital anomalies plus hypoplastic genit alia and short limbs. Clinically he had marked hypotonia, convulsions and apneic episodes. He died shortly after birth. His brother, Patient 2, had OFD features with conductive hearing loss and normal psychomen tal development. He did not have syndactylous reduplication of the gre at toes, although the toes were disproportionately large. These two pa tients are classified as OFD type II-Mohr syndrome. Involvement of the central nervous system in OFD type II is noted. Different phenotypic findings could be explained as variable gene expressivity. The patient s described here support the hypothesis that the clinical variability of the Mohr syndrome is even wider than previously thought.