A Japanese patient with the Costello syndrome

descriptionPublicationkeyboard_double_arrow_right Article 01 May 1994 English Publisher:Springer Science and Business Media LLCJournal:Human Genetics, volume 93 (issn: 0340-6717, eissn: 1432-1203,

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Authors: N, Okamoto; H, Chiyo; K, Imai; K, Otani; Y, Futagi;

doi: 10.1007/bf00202834

pmid: 8168845

A Japanese patient with the Costello syndrome

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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.

Related Organizations

Osaka Women's and Children's Hospital
Japan
Osaka University
Japan

Keywords

Limb Deformities, Congenital, Dwarfism, Syndrome, Face, Intellectual Disability, Skin Abnormalities, Humans, Abnormalities, Multiple, Female, Child

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