Literature DB >> 15448396

Kabuki make-up syndrome.

M L Kulkarni1, Sudarshan K Shetty, V K Chandrasekar, Preethi M Kulkarni.   

Abstract

Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.

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Mesh：

Year:  2004        PMID： 15448396     DOI： 10.1007/bf02730729

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  17 in total

1.  Biliary atresia in Kabuki syndrome.

Authors:  J M McGaughran; D Donnai; J Clayton-Smith
Journal:  Am J Med Genet       Date:  2000-03-13

2.  Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?

Authors:  A Donadio; L Garavelli; G Banchini; G Neri
Journal:  Am J Med Genet       Date:  2000-03-13

3.  Unexpected life-threatening complications in Kabuki syndrome.

Authors:  M M van Haelst; A S Brooks; J Hoogeboom; M W Wessels; D Tibboel; J C de Jongste; J C den Hollander; J J Bongers-Schokking; M F Niermeijer; P J Willems
Journal:  Am J Med Genet       Date:  2000-09-11

4.  Precocious puberty in Kabuki makeup syndrome.

Authors:  Y Kuroki; N Katsumata; T Eguchi; Y Fukushima; S Suwa; T Kajii
Journal:  J Pediatr       Date:  1987-05       Impact factor: 4.406

5.  Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears.

Authors:  A Koutras; S Fisher
Journal:  J Pediatr       Date:  1982-09       Impact factor: 4.406

6.  A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Authors:  Y Kuroki; Y Suzuki; H Chyo; A Hata; I Matsui
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

7.  Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Authors:  N Niikawa; N Matsuura; Y Fukushima; T Ohsawa; T Kajii
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

8.  Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

Authors:  A Ewart-Toland; G M Enns; V A Cox; G C Mohan; P Rosenthal; M Golabi
Journal:  Am J Med Genet       Date:  1998-12-04

9.  Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in Europe.

Authors:  O H Braun; E Schmid
Journal:  J Pediatr       Date:  1984-11       Impact factor: 4.406

10.  Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome.

Authors:  K Devriendt; L Lemli; M Craen; F de Zegher
Journal:  Horm Res       Date:  1995
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