Ectodermal dysplasia (ED) is a heritable condition and represents a multifarious group of diseases comprising different clinical signs and symptoms. The ED occurs as a result of disturbances in the ectoderm of the evolving embryo. Agenesis of teeth or anodontia is also the result of disturbance in this process, which prevents the proliferation of tooth buds. In the present case, an 18-month-old child with history of congenital anomalies (CAs), severely delayed developmental milestones, and mental retardation presented with complete anodontia and ED. The CA included pulmonary stenosis, pulmonary valvar regurgitation, ventricular septal defect (VSD), absence of grips, absence of head-holding capacity, inability to sit, simian crease (R), visual impairment with corectopia, blepharitis, lagophthalmos with cortical visual impairment, telecanthus, hypotrichosis, hypertelorism, high philtrum, high arched palate, degenerated nails, and depressed third toes. Routine karyotyping via peripheral blood culture revealed a ring chromosome 18, which was confirmed de novo after parental karyotyping. Although a straightforward association between r(18) and anodontia is yet to be established, it is apparent that anodontia coupled with multiple CA and systemic complications was caused by chromosomal/genetic mutations in the present case, and thus, this report strongly recommends phenotypic and genotypic examination in dental management in such a complex scenario.
Keywords: Anodontia, Ectodermal dysplasia, Karyotyping, Ring chromosome r(18).
How to cite this article: Mandal S, Kadam NN, Ram SM, Ganguly BB, Shenoy VU. Ectodermal Dysplasia and Anodontia associated with Ring Chromosome 18. J Contemp Dent 2016;6(3):220-224.
Source of support: Nil
Conflict of interest: None