Kabuki Make-up Syndrome  A Case Report with Electromyographic study

Atul Sattur; Pallavi K Deshmukh; Lijoy AbrahimVenkatesh G Naikmasur

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Kabuki Make-up Syndrome A Case Report with Electromyographic study

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Kabuki make-up syndrome (KMS), also called Niikawa-Kuroki syndrome reported in 1981, is a rare congenital disorder of unknown aetiology. It is know to occur in many other ethnic groups, though initially described in Japan. We report a 24-year-old girl of Asian origin diagnosed with Kabuki syndrome based on characteristic clinical features. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, Dermatoglyphic abnormalities, short stature. As per our knowledge there is no literature which gives information about the importance of electromyographic study in the diagnosis and treatment of the KMS. Hence, this report emphasizes on the role of the same.

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《journal of clinical and diagnostic research》 |2014年第11期|3-6|共4页
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Atul Sattur; Pallavi K Deshmukh; Lijoy AbrahimVenkatesh G Naikmasur;
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1. Inner ear abnormalities in Kabuki make-up syndrome: Report of three cases [J] . Igawa HH, Nishizawa N, Sugihara TInuyama Y american journal of medical genetics . 2000,第2期

机译：Inner ear abnormalities in Kabuki make-up syndrome: Report of three cases
2. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41 [J] . Makita Y, Yamada K, Miyamoto AOkuno ANiikawa N american journal of medical genetics . 1999,第3期

机译：Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41
3. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. [J] . SOhdo, HMadokoro, TSonodaTNishiguchiKKawaguchiKHayakawa journal of medical genetics . 1985,第2期

机译：Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.
4. Make-up of a Simulator having the Same Brake Characteristics as Actual Elevator Emergency Stop Device [C] . Kazuo Suzuki, Akira Haga, Naoya Hayakawa, International Conference on Electrical Machines and Systems . 2013

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Kabuki Make-up Syndrome  A Case Report with Electromyographic study

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Kabuki Make-up Syndrome A Case Report with Electromyographic study