International Journal of Science and Research (IJSR) ISSN: 2319-7064 ResearchGate Impact Factor (2018): 0.28 | SJIF (2018): 7.426 Volume 9 Issue 1, January 2020 www.ijsr.net Licensed Under Creative Commons Attribution CC BY Breaching the Gap between Clinical and Radiographic Diagnosis of Amelogenesis Imperfecta: A Review Madhura Mahajan 1 , Manjushri Waingade 2 , Pooja Rathod 3 , Sunaina Swatantramath 4 1 Post-Graduate Student, Sinhgad Dental College and Hospital, Pune, India 2 Professor, Sinhgad Dental College and Hospital, Pune, India 3, 4 Post-Graduate Student, Sinhgad Dental College and Hospital, Pune, India Abstract: Amelogenesis imperfecta encompasses a complicated group of conditions which demonstrate developmental alterations in the structure of enamel in the absence of systemic disorder or syndrome. A complex inheritance pattern gives rise to amelogenesis imperfecta. It affects the structure and appearance of enamel both in the primary and secondary dentition. Gene mutations which are responsible for deformed amelogenesis result in diverse phenotypes showing a wide spectrum of characteristics. It is important to understand the different phenotypes and associated radiographic findings related to AI to help narrow down the search for a candidate gene in order to establish a definitive molecular aetiology. Precise diagnosis of AI done by clinical and radiographic findings will help in stabilisation, restoration and regular maintenance of the patient. Keywords: Amelogenesis imperfecta, Hypoplasia, Hypomaturation, Hypocalcification, Taurodontism 1. Introduction Amelogenesis imperfecta (AI) is a collective term used for a number of conditions with abnormal enamel formation. The first definition of AI was given by Weinmann et al (1945) – “as a disease caused by a primary defect in enamel” & they classified AI into two types, namely hypoplastic and hypocalcified. 1,2 Aldred MJ in 2003 gave a refined definition in order to diagnose AI –“A group of conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth, and which may be associated with morphologic or biochemical changes elsewhere in the body.” 1 Amelogenesis imperfecta (AI) comprises a group of low prevalence hereditary conditions that cause alterations in the structure or morphology and chemical composition of the enamel matrix during development .2,3 The condition affects both quality and quantity of the enamel. The average global prevalence of AI is <0.5% (<1 in 200). 2,4,5 The condition is not a single entity. It consists of a number of subtypes, characterized by their varying modes of inheritance and different clinical and radiographic appearances. According to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex. Although AI is generally considered to primarily affect the enamel, there are numerous reports of other manifestations associated such as taurodontism or elongation of the pulp chamber due to apical displacement of the root furcation, etc. 4,6 As AI is a rare and heterogeneous condition from a clinical and genetic point of view, dental clinicians, in general, have difficulty in making a correct diagnosis about the presence of AI and the identification of its clinical subtype. 3 Hence, it is a clinician’s job to diagnose the condition rightly and to manage the manifestations in early stage. 2. Discussion Amelogenesis is a process in which normal enamel is synthesized during tooth development as an extracellular matrix and it occurs in two stages- Secretory and Maturation. In the secretory stage, the ameloblasts produce a partially mineralized protein matrix that will correspond to the adult enamel. In the maturation stage, the protein matrix is degraded and mineralization gets completed. 3,7 As the name suggests, amelogenesis imperfects is a condition associated with defective amelogenesis. For diagnostic purpose, AI represents a group of conditions,genomic in origin, that affect the morphological appearance and chemical composition of enamel of all or nearly all the teeth in a more or less equal manner. 8 Classification of AI- Witkop and Rao in 1971 divided the conditions first into three groups 1,9 (A)Hypoplastic 1) Autosomal dominant hypoplastic–hypomaturation with taurodontism  Winter type  Crawford type 2) Autosomal dominant smooth hypoplastic with eruption defect and resorption of teeth 3) Autosomal dominant rough hypoplastic 4) Autosomal dominant pitted hypoplastic 5) Autosomal dominant local hypoplastic 6) X-linked dominant rough hypoplastic (B) Hypocalcified 1) Autosomal dominant hypocalcified Paper ID: ART20204011 DOI: 10.21275/ART20204011 865