Complete median cleft of the mandible and aplasia of the epiglottis. A case report.
A rare case of complete median mandibular cleft without associated anomalies of the adjacent soft-tissue structures is presented. Aplasia of the epiglottis was also present, a combination not previously reported. The anomaly seems to be the result of arrested development of the lower half of the first branchial arch, and in particular of the mesenchymal elements. It may assume varying degrees of severity, ranging from an incomplete cleft of the lower lip or mandible (or both) to a complete midline cleft of the lower lip, mandible and tongue, sometimes with associated deformities of soft-tissue structures derived from the lower branchial arches in the neck. Although there is no consensus on the timing of corrective procedures, the strategy favoured by most seems to be early repair of the soft-tissue abnormalities and deferment of the mandibular repair until after puberty. Persistent aspiration due to the absence of the epiglottis necessitated performance of a tracheostomy and feeding gastrostomy in our patient. The patient sustained an anoxic episode as a result of tracheostomy obstruction and died a few weeks later.
D004825:Epiglottis / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008334:Mandible / Q000002:abnormalities*