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  • Title: A Japanese patient with the Costello syndrome.
    Author: Okamoto N, Chiyo H, Imai K, Otani K, Futagi Y.
    Journal: Hum Genet; 1994 May; 93(5):605-6. PubMed ID: 8168845.
    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.
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