Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

@article{Johnson1998CostelloSP,
  title={Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.},
  author={J Patrick Johnson and Mahin Golabi and Mary E Norton and Roz Rosenblatt and G. M. Feldman and Samuel P Yang and Bryan Hall and Melissa H. Fries and John C Carey},
  journal={The Journal of pediatrics},
  year={1998},
  volume={133 3},
  pages={441-8}
}
We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism… CONTINUE READING