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.
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References
Costello JM (1977) A new syndrome: mental subnormality and nasal papillomata. Aust Paediatr J 13:114–118
DerKaloustian VM, Moroz B, McIntosh N, Watters AK, Blaichman S (1991) Costello syndrome. Am J Med Genet 41:69–73
Martin RA, Jones KL (1991) Delineation of the Costello syndrome. Am J Med Genet 41:346–349
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Okamoto, N., Chiyo, Ha., Imai, K. et al. A Japanese patient with the Costello syndrome. Hum Genet 93, 605–606 (1994). https://doi.org/10.1007/BF00202834
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DOI: https://doi.org/10.1007/BF00202834