Abstract

BOCCARATO, ADRIANA; LARRANDABURU, MARIELA; RODRIGUEZ, ÁNGELES  and  GUTIERREZ, CARMEN. Síndrome de Mohr. Arch. Pediatr. Urug. [online]. 2001, vol.72, n.3, pp.217-221. ISSN 1688-1249.

The oral-facial-digital syndromes (OFD) represent an heterogeneous group of genetic disorders characterized by oral, facial and digital abnormalities. Other organ abnormalities depending on OFD type, may be included. Nine different clinical entities have been identified up to the present. The phenotypic findings could be explained as variable gene expressively and often display overlapping features between them. We report on a patient with manifestations of OFD type II or Mohr Syndrome and agenesis of the corpus callosum.

Keywords : OROFACIODIGITAL SYNDROMES;     CORPUS CALLOSUM; abnormalities.