A Japanese patient with the Costello syndrome.

Hum Genet

Division of Developmental Pediatrics, Osaka Medical Center, Japan.

Published: May 1994

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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http://dx.doi.org/10.1007/BF00202834DOI Listing

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