Oromandibular limb hypogenesis syndrome: a singular variation of a rare syndrome: a case report

Abstract

Background:A positive prenatal history of maternal fever has been found to express as a range of defects in infants including limb reduction, central nervous system defects, facial dysmorphogenesis and foetal death. Oromandibular limb hypogenesis syndrome is a rare spectrum of congenital disorders characterised by malformations of the tongue, mandible, maxilla and limbs. They present as sporadic cases with extremely low incidence and seldom occur with associated syngnathia. Syngnathia can manifest as fibrous, bony or in combination.Observation:Here we represent a rare case of Oromandibular limb hypogenesis syndrome type IV E with combination of syngnathia, cleft palate, retrognathia and hypoglossia-hypodactylomelia. An early surgical release of syngnathia was undertaken on having features of failure to thrive, high risk of aspiration and related complications due to enteral feeding.Conclusion:Delaying the surgical procedure could result in growth restriction and progressive ankylosis of the Temporomandibular joint (TMJ). It is essential to document the singular variant of Oromandibular limb hypogenesis syndrome (OLHS) to the medical literature.