title: Smith-Magenis Syndrome: Face Speaks.
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.
authors.affiliation: Department of Medical Genetics, Mahatma Gandhi Medical College and Hospital, Jaipur, Rajasthan, India.
authors.forename: Rekha
authors.initials: R
authors.lastname: Gupta
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara, Cochin, Kerala, India.
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raibereli Road, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raibereli Road, Lucknow, Uttar Pradesh, 226014, India.
authors.forename: Yougal
authors.initials: Y
authors.lastname: Kishore
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Sharma
authors.affiliation: Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raibereli Road, Lucknow, Uttar Pradesh, 226014, India. shubha@sgpgi.ac.in.
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D010641:Phenotype; D058496:Smith-Magenis Syndrome / Q000150:complications* / Q000473:pathology
keywords: Cytogenetic microarray (CMA); Developmental delay (DD); Fluorescent in situ hybridization (FISH); Intellectual disability (ID); Multiplex ligation dependant probe amplification (MLPA); Smith-Magenis syndrome (SMS)