Oromandibular Limb Hypogenesis Syndrome Type I B as a Rare Clinical Variant: A Case Report and Review of the Literature

Hypoglossia-hypodactyly is an uncommon genetic abnormality affecting the tongue and limbs. First, it was classified under a multipart group of disorders called oromandibular limb hypogenesis syndromes. The most extensively accepted etiology is intrauterine trauma. Hypoglossia, micrognathia of the mandible, and limb anomalies are the characteristic features of the syndrome.

A 19-year-old female patient was admitted to the Oral Medicine Department of the Dental School, Semnan University of Medical Sciences, for a dental checkup. After obtaining informed consent, the necessary dental prophylaxis was performed. This case was unique because the patient had only aglossia and deformity in her right hand and fingers.

Since the disease is rare and presents as the first case in Iran, dentists must have knowledge about its clinical features and proper patient management. They also should explain the significance of systematic dental checkups, perfect oral hygiene, and the use of regular fluoride to patients. Therefore, the awareness of dentists is essential about diagnosis and appropriate referral to specialists