An 8-year-old female patient (proband) reported to the Department of Paediatric Dentistry with a chief complaint of multiple decayed teeth in lower left quadrant of the jaw. The patients past medical history and the family history were not significant. It was patient's first visit to a dentist. Extra-oral examination revealed no abnormalities. Intraoral examination, revealed grossly decayed teeth in relation to 54, 65, 74 and hypo plastic teeth in relation to 64 and 84. The proband (III: 9) Orthopantomographic (OPG) examination revealed agenesis of 18 teeth including third molars. The missing teeth were 12, 13, 15, 17, 18, 22, 23, 25, 27, 28, 33, 35, 37, 38, 43, 45, 47,. The panoramic radiograph also revealed a few developing permanent teeth in relation to 14, 24, 16 and 26. The teeth present were reduced in size, shape. Interviews revealed missing teeth were not extracted and were absence since childhood. Clinical examination of her siblings and the mother showed to have a similar problem.
pedigree chartProbands three generation familial pedigree chart was drawn. Probands both parents side pedigree chart was drawn separately. Probands grandparents of both side were no longer lived, so history of missing teeth could not be assessed, excluding them the entire members in the family (25members) were examined clinically. Except for the proband, her siblings and her mother, no one else in the entire family had any history of congenitally missing teeth [Table/ Fig-2].Probands father (II:7) aged 50 years did not have any missing teeth and mother (II:8) of age 38 years had retained teeth in relation to 63, and congenitally missing teeth in relation to 12, 18, 22, 28, 38,. Probands brother (III:7) of age 17 years was examined clinically and radiographically which revealed retained primary teeth in relation to 52, 53, 62, 71, 72, 73, 75, 81, 82, and congenitally missing permanent teeth 12, 13, 18, 22, 28, 31, 32, 33, 35, 38, 41, 42, 43 [ Oligodontia is congenital absence of one or more teeth which has familial abnormality and attributable to various mutations or polymorphisms of genes often associated with malformative syndromes. The present case reports a rare case of non syndromic oligodontia in an 8-year-old girl with missing 14 permanent teeth excluding third molars in mixed dentition. It is a rare finding which has not been frequently documented in Indian children. Mutations in MSX1 and PAX9 have been described in families in which inherited oligodontia characteristically involves permanent incisors, lateral incisors, premolars and molars. Our study analysed one large family with dominantly inherited oligodontia clinically and genetically. This phonotype is distinct from oligodontia phenotypes associated with mutations in PAX9. Sequencing of the PAX9 revealed a novel mutation in the paired domain of the molecule. The multiple sequence alignment and SNP analysis of the PAX9 exon 2 revealed two mutations.[