A Japanese patient with the Costello syndrome

✍ Scribed by Nobuhiko Okamoto; Hide-aki Chiyo; Katsumi Imai; Kazumasa Otani; Yasuyuki Futagi

• Publisher: Springer
• Year: 1994
• Tongue: English
• Weight: 627 KB
• Volume: 93
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00202834

✦ Synopsis

The Costello s y n d r o m e 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.