A Japanese patient with the Costello syndrome
- Cite this article as:
- Okamoto, N., Chiyo, H., Imai, K. et al. Hum Genet (1994) 93: 605. doi:10.1007/BF00202834
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.