A JAPANESE PATIENT WITH THE COSTELLO SYNDROME

Authors
OKAMOTO N CHIYO HA IMAI K OTANI K FUTAGI Y
Citation
N. Okamoto et al., A JAPANESE PATIENT WITH THE COSTELLO SYNDROME, Human genetics, 93(5), 1994, pp. 605-606
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
93
Issue
5
Year of publication
1994
Pages
605 - 606
Database
ISI
SICI code
0340-6717(1994)93:5<605:AJPWTC>2.0.ZU;2-2
Abstract
The Costello syndrome is characterized by dwarfism, unique cutaneous l esions, 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 c arried out to treat severe gastroesophageal reflux. Endocrinological i nvestigations revealed a partial deficiency of growth hormone.