Paciente con síndrome oro-facio-digital tipo II. Reporte del caso
2017; Universidad de Antioquia; Volume: 30; Issue: 1 Linguagem: Inglês
10.17533/udea.iatreia.v30n1a09
ISSN2011-7965
AutoresTammy Edel, AG Zárate-Sanabria, Ignacio Briceño, Julio Martínez,
Tópico(s)Connective tissue disorders research
ResumoOro-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.
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