Literature DB >> 1749676

Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children.

A Carcione1, E Piro, S Albano, G Corsello, A Benenati, M Piccione, V Verde, L Giuffrè, A Albancse.   

Abstract

The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.

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Year:  1991        PMID: 1749676     DOI: 10.1007/bf02026678

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  12 in total

1.  The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black.

Authors:  M I Kaiser-Kupfer; J J Mulvihill; K L Klein; D M Parry; S L Schlesinger
Journal:  Am J Ophthalmol       Date:  1986-11-15       Impact factor: 5.258

2.  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

Review 3.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Authors:  N Niikawa; Y Kuroki; T Kajii; N Matsuura; S Ishikiriyama; H Tonoki; N Ishikawa; Y Yamada; M Fujita; H Umemoto
Journal:  Am J Med Genet       Date:  1988-11

4.  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

5.  Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.

Authors:  F Halal; R Gledhill; A Dudkiewicz
Journal:  Am J Med Genet       Date:  1989-07

6.  Kabuki make-up syndrome in a Caucasian.

Authors:  R A Pagon; A L Downing; R H Ruvalcaba
Journal:  Ophthalmic Paediatr Genet       Date:  1986-08

7.  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

8.  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

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.  Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

Authors:  S Ohdo; H Madokoro; T Sonoda; T Nishiguchi; K Kawaguchi; K Hayakawa
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

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  4 in total

1.  The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Authors:  C Schrander-Stumpel; P Meinecke; G Wilson; G Gillessen-Kaesbach; S Tinschert; R König; N Philip; R Rizzo; J Schrander; L Pfeiffer
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

2.  [Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis].

Authors:  J M Hempel; L Jäger; A Naumann; K Schorn
Journal:  HNO       Date:  2005-03       Impact factor: 1.284

3.  Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.

Authors:  Ettore Piro; Ingrid Anne Mandy Schierz; Vincenzo Antona; Maria Pia Pappalardo; Mario Giuffrè; Gregorio Serra; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2020-09-18       Impact factor: 2.638

4.  Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl.

Authors:  Yasemin Topcu; Erhan Bayram; Pakize Karaoglu; Uluc Yis; Semra Hız Kurul
Journal:  J Pediatr Neurosci       Date:  2013-09
  4 in total

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