Affordable Access

New brittle bone disorder: report of a family with six affected individuals.

Authors
  • Nishimura, G
  • Haga, N
  • Aoki, K
  • Hamazaki, M
  • Taniguchi, K
  • Iwaya, T
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Jun 04, 1999
Volume
84
Issue
4
Pages
320–329
Identifiers
PMID: 10340645
Source
Medline
License
Unknown

Abstract

We report on a family in which four females and two males in three generations had a previously undescribed brittle bone disorder that was dominantly transmitted through a maternal line. The cardinal manifestations of the disorder comprised dolichocephaly with frontal bossing, hypoplasia of the midface, postpubertal prognathism, micromelic short stature, coarse trabeculae of the entire skeleton, and bone fragility of variable degrees. Mild spondylar modification and iliac hypoplasia were other hallmarks that were recognized in childhood. The proband, a 19-year-old male, was most severely affected with multiple wormian bones in the calvaria, repetitive fractures, intractable bowing of the legs and forearms, and pseudofractures of the long bones with metaphyseal narrowing. His male cousin was next severely affected with angular deformity restricted to the forearm. The four females were much less affected without angular deformity. The mode of inheritance was thus consistent with either an autosomal dominant trait with sex-influence or an X-linked semidominant trait. Histological bone examination in the proband showed atrophy and fibrous degeneration of the lamellar trabeculae and disorganized chondro-osseous junction, which implied that the disorder involved both intramembranous and enchondral ossifications.

Report this publication

Statistics

Seen <100 times