Median Facial Cleft Dysmorphism in Three Siblings: Case Report and Review of the Literature

Abstract

Cleft of the facial midline is an extremely rare entity, occurring in probably less than 1 per 100,000 births (Kawamoto and Patel, 1998). Median facial cleft may present with a wide spectrum of features, including hypertelorbitism, V-shaped frontal hairline, bifid cranium, broad nasal root, bifid nose, median cleft of the upper lip, and median cleft of the premaxilla (Urata and Kawamoto, 2003). This condition is most commonly known as a 0–14 cleft, as classified by Tessier (1976), but multiple other classifications and terminologies have been proposed (DeMyer, 1963; Sedano et al., 1970; Cohen, 1982; van der Meulen et al., 1983; Kawamoto and Patel, 1998). In this article, we will refer to all cases as median facial cleft dysmorphism, as suggested by Kawamoto and Patel (1998). Genetic inheritance is most commonly sporadic, with other reported cases suggesting an autosomal dominant or Xlinked dominant inheritance pattern. We report three cases of median facial cleft dysmorphism, all of which occurred in siblings of the same family; we describe the clinical features and give support to the published literature suggesting an autosomal dominant inheritance pattern.