Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene

In 1954, Papillon-Léage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. Clinical examination showed cleft palate, median cleft lip, multiple oral frenulae, lobulated tongue and brachydactyly. There was no mental retardation. At 19 years of age, renal insufficiency appeared. A renal transplantation was performed. The parents were unaffected. An older brother had hydrocephaly, bilateral optic atrophy and mental retardation. A younger sister is unaffected. A mutation, an insertion of a G leading to a frameshift in the OFD 1 gene, was identified in this patient.