Smith-Magenis Syndrome: Face Speaks

Gupta Rekha; Gupta Neerja; Nampoothiri SheelaMandal KausikKishore YougalSharma PankajKabra MadhulikaPhadke Shubha R.

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Smith-Magenis Syndrome: Face Speaks

机译：Smith-Magenis Syndrome: Face Speaks

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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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《Indian journal of pediatrics》 |2016年第6期|589-593|共5页
作者
Gupta Rekha; Gupta Neerja; Nampoothiri SheelaMandal KausikKishore YougalSharma PankajKabra MadhulikaPhadke Shubha R.;
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作者单位

Mahatma Gandhi Med Coll & Hosp, Dept Med Genet, Jaipur, Rajasthan, India;

All India Inst Med Sci, Dept Pediat, Div Genet, New Delhi, India;

AIMS Ponekkara, Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, IndiaSanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Raibereli Rd, Lucknow 226014, Uttar Pradesh;

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原文格式 PDF
正文语种英语
中图分类儿科学;
关键词
Smith-Magenis syndrome (SMS); Multiplex ligation dependant probe amplification (MLPA); Fluorescent in situ hybridization (FISH); Cytogenetic microarray (CMA); Developmental delay (DD); Intellectual disability (ID);

Smith-Magenis Syndrome: Face Speaks

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