Abstract
The deletion of chromosome 22q11.2 is described as Velocardiofacial Syndrome orDi George Syndrome. CATCH 22 stands for cardiac defect, abnormal faces, thymichypoplasia, cleft palate, hypocalcaemia.Other defects seen are velopharyngeal insufficiency with or without cleft palate,immune problems, feeding difficulties, hypocalcaemia, learning disabilities,behavioral abnormalities and lastly characteristic facial features.A high prevalence ofdental caries, abnormalities of tooth shape, eruption and number, and enamel defectssuch as hypomineralisation and hypoplasia are also seen in these patients.A case of 7year old child with Veligocardiofacial syndrome is discussed in thisarticle. Facial dysmorphism and common dental manifestations is typically noticeablein patients with this syndrome. Enamel aberrations related to hypocalcemia mayresult in a higher frequency of dental caries. The dentists need to be aware of thedental features of this condition in order to refer them to the adequate specialists.
Highlights
DiGeorge syndrome (DGS) is a rare genetic disorder resulting from a defect involving third (III) and fourth (IV) pharyngeal pouches and arches, during embryonic development [1,2,3]
DiGeorge syndrome phenotypic spectrum is wide as it includes heart defects, skeletal abnormalities, velopharyngeal insufficiency with or without cleft palate, immune problems, hypocalcemia, learning disabilities and behavioral abnormalities
DGS causes a wide variations of clinical manifestations
Summary
DiGeorge syndrome (DGS) is a rare genetic disorder resulting from a defect involving third (III) and fourth (IV) pharyngeal pouches and arches, during embryonic development [1,2,3] This results in the failure of cardiac neural crest cells to infiltrate the pharyngeal pouches properly, leading to neural crest defects and subsequently congenital heart problems [4]. It is the most common micro deletion syndrome in humans with an incidence of 1:4000 in the community [5,6]. The upper right canine and lower left permanent lateral incisor were completely intact. (Figure 2,3) Patient had small mouth opening and was quite uncooperative which made it difficult to take proper photographs
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