Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Abstract

Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female pre- sented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anoma- lies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature.