A Japanese patient with the Costello syndrome.
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.
Okamoto
N
N
Division of Developmental Pediatrics, Osaka Medical Center, Japan.
Chiyo
H
H
Imai
K
K
Otani
K
K
Futagi
Y
Y
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