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Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : Indian J Pediatr
Source : Indian J Pediatr, Volume 83, Issue 6, p.589-93 (2016)
Keywords : chromosome deletion, Chromosomes, Human, Pair 17, face, Humans, Intellectual Disability, phenotype, Smith-Magenis Syndrome
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2016
Abstract : Smith-Magenis syndrome is a well delineated microdeletion syndrome with characteristic facial and behavioral phenotype. With the availability of the multi-targeted molecular cytogenetic techniques like Multiplex Ligation Probe Amplification and cytogenetic microarray, the cases are diagnosed even without clinical suspicion. Here, the authors present clinical features of nine Indian cases of Smith-Magenis syndrome. Characteristic facial phenotype including tented upper lip, broad forehead, midface hypoplasia, short philtrum and upslant of palpebral fissure is obvious in the photographs. The behavioral variations were seen in some of the cases but were not the presenting features. The characteristic facial phenotype can be an important clinical guide to the diagnosis.
Cite this Research Publication : R. Gupta, Gupta, N., Nampoothiri, S., Mandal, K., Kishore, Y., Sharma, P., Kabra, M., and Phadke, S. R., “Smith-Magenis Syndrome: Face Speaks.”, Indian J Pediatr, vol. 83, no. 6, pp. 589-93, 2016.