Abstract

EDEL, Tamy; ZARATE-SANABRIA, Andrés Gabriel; BRICENO-BALCAZAR, Ignacio  and  MARTINEZ-LOZANO, Julio César. Oro-facial-digital syndrome type II. Report of the case. Iatreia [online]. 2017, vol.30, n.1, pp.86-91. ISSN 0121-0793.  https://doi.org/10.17533/udea.iatreia.v30n1a09.

Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general population ranges from less than 1/1.000.000 to 1/250.000 living births. Patients usually present developmental disorders that affect the mouth, face, hands and feet. So far, most of the genes involved are unknown, so diagnosis is clinical. We report the case of a child with oral, facial, and digital alterations, and hearing impairment suggestive of the OFD syndrome. Phenotype was consistent with the type II variant. Discussion is based on the criteria for variants of the syndrome.

Keywords : Cleft lip/palate; Hearing Loss; OFD type II variant; Syndrome Oro-Facial-Digital.

        · abstract in Spanish | Portuguese     · text in Spanish     · Spanish ( pdf )