Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child
Article first published online: 22 APR 2004
Copyright © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 128A, Issue 2, pages 204–208, 15 July 2004
How to Cite
Nishimura, G., Hasegawa, T., Kinoshita, E., Tanaka, Y., Kurosawa, K. and Yoshimoto, M. (2004), Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child. Am. J. Med. Genet., 128A: 204–208. doi: 10.1002/ajmg.a.30030
- Issue published online: 17 JUN 2004
- Article first published online: 22 APR 2004
- Manuscript Accepted: 27 OCT 2003
- Manuscript Received: 22 JUL 2003
- The Pfeizer Fund for Growth and Development
- undermodeling of the bone;
- spondylar dysplasia;
We report on a previously undescribed syndrome characterized by generalized skeletal alterations and overgrowth in three unrelated individuals: a boy who died at age 16 years, a 16-year-old girl, and a 15-month-old boy. The skeletal changes included bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Bone age was accelerated in early childhood. Overgrowth, which was independent of GH–IGF axis, was of prenatal onset in the two boys, but postnatal in the girl. In the two adolescents, growth rate did not decline with age, and high-dose estrogen therapy failed to induce physeal fusion. Their adolescent height reached +4∼+7 SD of the mean. Delayed puberty in the girl and cryptorchidism and hypospadias in the younger boy raised the possibility that hypogonadism is a syndromic constituent. Molecular analysis of IGF2, GPC3, and FGFR3 in the older boy yielded no abnormalities. © 2004 Wiley-Liss, Inc.