Median cleft of the lower lip and mandible: case reports, a new embryologic hypothesis, and subdivision

Median clefts of the lower lip and mandible are rare. In the literature so far, about 62 cases have been described. In addition, three more patients are presented here. These cases show a broad variation in the severity of this deformity, ranging from a simple notch in the vermillion to a complete cleft of the lip involving the tongue, the chin, the mandible, the supporting structures of the median of the neck, and the manubrium sterni. Several hypotheses concerning the pathogenesis of median clefts of the lip and mandible have been proposed. Most authors consider it to be a failure of fusion of the first pair of branchial arches or failure of mesodermal penetration into the midline. From our embryologic point of view, however, instead of paired branchial arches, only one first branchial arch develops during the early embryonic period (< or = 17 mm crown-rump length). Within this first branchial arch, two mandibular processes grow out, separated by a groove in the median. These mandibular processes do not fuse but merge during the late embryonic period (> or = 17 mm to < or = 60 mm crown-rump length). In the same developmental period, there is formation of the lip and the alveolar process and the anlage and outgrowth of one membrane bone center in each mandibular process, resulting in the formation of the mandible with its symphysis. As a consequence of the preceding, we propose the following subdivision of the median clefts of the lip and/or mandible: Hypoplasia of the mandibular processes during the early embryonic period will lead to the severest cleft of the mandible extending into the neck. During the late embryonic period, the less severe median clefts will develop. Disturbances of the outgrowth of bone centers of the mandible, resulting in nonformation of its symphysis, cause clefting of the mandible with involvement of all related soft tissues. Defects in the merging process produce just a notch of the vermilion or a higher cleft of the lower lip with or without involvement of the alveolar process of the mandible. In conclusion, the variety of the clefts in the median of the lower lip and/or mandible as well as the low rate of incidence can be explained by the embryologic hypothesis proposed here.