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.
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Acknowledgments
The authors sincerely thank the families of the patients for their cooperation. Also they thank Indian Council of Medical Research for DNA banking facilities and microarray study.
Contributions
RG, NG and SN: Case collection, case compilation and preparation of rough draft of paper; SRP, MK and KM: Paper editing and preparing final draft; YK and PS: Techniqual laboratory help. SRP will act as guarantor for this paper.
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Indian Council of Medical Research.
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Gupta, R., Gupta, N., Nampoothiri, S. et al. Smith-Magenis Syndrome: Face Speaks. Indian J Pediatr 83, 589–593 (2016). https://doi.org/10.1007/s12098-015-1940-y
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DOI: https://doi.org/10.1007/s12098-015-1940-y