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Hum Genet. 1994 May;93(5):605-6.

A Japanese patient with the Costello syndrome.

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  • 1Division of Developmental Pediatrics, Osaka Medical Center, Japan.

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.

PMID:
8168845
[PubMed - indexed for MEDLINE]
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