title: A Japanese patient with the Costello syndrome.
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.
authors.affiliation: Division of Developmental Pediatrics, Osaka Medical Center, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: H
authors.initials: H
authors.lastname: Chiyo
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: K
authors.initials: K
authors.lastname: Otani
authors.forename: Y
authors.initials: Y
authors.lastname: Futagi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D017880:Limb Deformities, Congenital; D012868:Skin Abnormalities; D013577:Syndrome