Orodigitofacial syndromes type I and II: clinical and surgical studies.

Abstract

Eleven patients were followed at the multidisciplinary facial cleft department from 1963 to 1993. Nine had orodigitofacial (ODF) I syndrome (Papillon-Leage, 1954) and two had ODF II syndrome (Mohr, 1941). The authors observed seven median clefts of the upper lip, eight atypical cleft palates, nine lingual tumors, ten polylobed tongues, four ankyloglossia. All vestibular frenula were hypertrophied. Facial analysis showed five facial hypertelorisms, eight epicanthal folds, ten anomalies of the forehead. Nasal anomalies were constant with ten alar hypoplasia and four nasal curves. Syndactyly was the most frequent anomaly of the hand. Seven patients were mentally retarded. Transmission of ODF I is by X-linked dominant variable expression; ODF II is autosomal recessive. The difference in transmission means a precise diagnosis is necessary. Bilateral duplication of the great toe is characteristic of type II, but not pathognomonic. Hair and cutaneous anomalies suggest type I. The authors proposed a surgical treatment involving three operating steps.