Human Genetics

, Volume 93, Issue 5, pp 605–606

A Japanese patient with the Costello syndrome

  • Nobuhiko Okamoto
  • Hide-aki Chiyo
  • Katsumi Imai
  • Kazumasa Otani
  • Yasuyuki Futagi
Clinical Case Report

DOI: 10.1007/BF00202834

Cite this article as:
Okamoto, N., Chiyo, H., Imai, K. et al. Hum Genet (1994) 93: 605. doi:10.1007/BF00202834

Abstract

The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone.

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Nobuhiko Okamoto
    • 1
  • Hide-aki Chiyo
    • 1
  • Katsumi Imai
    • 2
  • Kazumasa Otani
    • 2
  • Yasuyuki Futagi
    • 2
  1. 1.Division of Developmental PediatricsOsaka Medical Center and Research Institute for Maternal and Child HealthOsakaJapan
  2. 2.Division of Pediatric NeurologyOsaka Medical Center and Research Institute for Maternal and Child HealthOsakaJapan

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