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The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia

The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia CLINICAL GENETICS ISSN 0009-9163 Letter to the Editor The Kabula make-up (Niikawa-Kurola) svndrome and isolated transient 6yperphosphatasemia Clin Genet 1994: 45: 330-331. 0Munksgaard, 1994 Received 25 June 1993, revised version received 26 January, accepted for publication 9 February 1994 To the Editor: The Kabuki make-up syndrome (KMS) is a recently delineated multiple congenital anomalies syndrome (Niikawa et al. 1988)with a peculiar combination of clinical signs and symptoms: distinct facies (like the traditional Japanese “Kabuki” actors’ make-up), postnatal growth retardation, dermatoglyphic and skeletal abnormalities, as well as mild to moderate mental retardation. Recently, we had the opportunity to diagnose this syndrome in a 3-year-old girl. She was examined for diagnostic evaluation because of slight to moderate mental retardation (developmental age of 2& years at a chronological age of 25 years) and more pronounced delayed speech development. She was the third and youngest child of healthy, non-related parents. The two older siblings, a boy and a girl, are normal. Pregnancy, term delivery and perinatal history were normal. From the first months of life, recurrent respiratory infections and otitis media were noted. At the age of 1 year, following a respiratory infection, she was investigated for a constantly elevated body temperature http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia

Devriendt, Koen; Fryns, Jean-Pierre
Clinical Genetics , Volume 45 (6) – Jun 1, 1994
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References (7)

Publisher
Wiley
Copyright
1994 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1994.tb04043.x
Publisher site
See Article on Publisher Site

Abstract

CLINICAL GENETICS ISSN 0009-9163 Letter to the Editor The Kabula make-up (Niikawa-Kurola) svndrome and isolated transient 6yperphosphatasemia Clin Genet 1994: 45: 330-331. 0Munksgaard, 1994 Received 25 June 1993, revised version received 26 January, accepted for publication 9 February 1994 To the Editor: The Kabuki make-up syndrome (KMS) is a recently delineated multiple congenital anomalies syndrome (Niikawa et al. 1988)with a peculiar combination of clinical signs and symptoms: distinct facies (like the traditional Japanese “Kabuki” actors’ make-up), postnatal growth retardation, dermatoglyphic and skeletal abnormalities, as well as mild to moderate mental retardation. Recently, we had the opportunity to diagnose this syndrome in a 3-year-old girl. She was examined for diagnostic evaluation because of slight to moderate mental retardation (developmental age of 2& years at a chronological age of 25 years) and more pronounced delayed speech development. She was the third and youngest child of healthy, non-related parents. The two older siblings, a boy and a girl, are normal. Pregnancy, term delivery and perinatal history were normal. From the first months of life, recurrent respiratory infections and otitis media were noted. At the age of 1 year, following a respiratory infection, she was investigated for a constantly elevated body temperature

Journal

Clinical Genetics – Wiley

Published: Jun 1, 1994

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