Shalini Sharma , S.Sudeep , Antarmayee Panigrahi 

ABSTRACT

Amelogenesis Imperfecta (AI) is a hereditary disorder expressing a group of conditions causing developmental alterations in structure of enamel, affecting aesthetics and function of enamel of one or all teeth in varying degree. It can either occur as isolated trait or with abnormalities in syndromes. Being genomic in nature, it can occur either as autosomal dominant or recessive, X-linked dominant and recessive modes of inheritance. Hypoplastic enamel has been commonly associated with growth hormone deficiency and vice versa as well. However, available literature lacks reported case of AI with growth hormone deficiency. This case report presents a case of 12year old prepubertal girl with AI with growth hormone deficiency, squamous papilloma and skin lesions. This rare conglomeration of presentation makes it the first reported case of this kind and second reported case of AI with growth hormone deficiency. Following appropriate diagnosis and pedigree charting, full mouth rehabilitation was done with adhesive restorations and preformed crowns to restore the hard tissues and function. Patient was put on preventive protocol and regular follow up aiming as enhancing oral and general health as well as her quality of life.