Subhas Babu G

Oromandibular-limb Hypogenesis Syndrome Type II C: A Rare Case

The oromandibular-limb hypogenesis syndrome comprises a group of anomalies which simultaneously affect the mandible, tongue, and maxilla with or without reductive limb anomalies. It is characterized by failure of development of the intraoral region and distal extremities. Multiple and variable deformities of the mandible, maxilla and tongue may occur in combination with a variety of limb defects. The wide range of presentation and combination of anomalies make classification difficult. They usually feature primarily in sporadic case reports because of their low incidence. The genetic origin of this syndrome is uncertain. It is congenital and there seems to be no sex predilection. The key radiographic features are retruded mandible, impacted teeth and malformed phalanges. When compared to available literature, frequently reported features like hypodontia, hypoglossia, microstomia, protruded maxilla and limb anomalies were present in our case. The case presented here is one of the rarest subtypes of this rare syndrome.

Mandibüler ve Palatal Anormallikle Beraber Sendromik Olmayan Hipoglossi

Dil; konusma, cigneme , tatma ve yutma gibi bircok fonksiyona sahip, vucudumuzun en hareketli organidir. Literaturde dilin sayisiz konjenital ve kalitimsal bozukluklari bildirilmistir. Mikroglossi olarak da bilinen hipoglossi nadir anomalilerden biridir. Cogunlukla diger sistemik anormalliklerle iliskilidir ancak nadiren izole bir antite olarak bulunur. Dilin gelismesindeki yokluk dusuk mandibuler gelismeye yol acar. Bu yazinin amaci nadir bir izole hipoglossi ve sebep oldugu mikrognatiyi sunmaktir. Hastamizda cok cok nadir gorulen hipoglossiye eslik eden palatal ve faucial pillar anormallikler de vurgulanmistir.