Oromandibular limb hypogenesis syndrome in a neonate

Abstract

The oromandibular-limb-hypogenesis syndrome (OLHS) is a rare presentation with orofacial defects and distal extremities malformations. This condition has a variable clinical spectrum and often leads to challenges in airway management, nutrition optimization along with physical rehabilitation. We present the course of a term neonate diagnosed with OLHS type IV E. The infant had a triangular hypoplastic mandible with fused symphysis menti, hypoglossia, ankyloglossia, and normal temporomandibular joint with multiple limb defects. Timely recognition, surgery, and multidisciplinary care aided in the successful management of airway, establishment of feeding, and speech. The presence of a normal temporomandibular joint and absence of cleft palate can be good prognostic factors for rehabilitation. Long-term follow-up remains essential as prosthetic rehabilitation, speech, and swallowing assessments are required for better quality of life.