当前位置： SCI文献检索 > EUROPEAN JOURNAL OF PEDIATRICS期刊下所有文献 > The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

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

Abstract：

:The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32,000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Schrander-Stumpel C,Meinecke P,Wilson G,Gillessen-Kaesbach G,Tinschert S,König R,Philip N,Rizzo R,Schrander J,Pfeiffer L

doi

10.1007/BF01983409

subject

Has Abstract,Author List Incomplete

pub_date

1994-06-01 00:00:00

pages

438-45

issue

6

eissn

0340-6199

issn

1432-1076

journal_volume

153

pub_type

杂志文章

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