[Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1]

Klin Padiatr. 2004 Mar-Apr;216(2):91-3. doi: 10.1055/s-2004-823144.
[Article in German]

Abstract

In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by following clinical criteria: four fractures after small trauma, intensive blue sclera, anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found.

Publication types

  • Case Reports

MeSH terms

  • Ankle Injuries / diagnosis
  • Ankle Injuries / genetics
  • Child, Preschool
  • Codon / genetics
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Cytosine / metabolism
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Femoral Fractures / diagnosis
  • Femoral Fractures / genetics
  • Follow-Up Studies
  • Fractures, Spontaneous / diagnosis
  • Fractures, Spontaneous / genetics
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Infant, Newborn
  • Osteogenesis Imperfecta / diagnosis
  • Osteogenesis Imperfecta / genetics*
  • Point Mutation / genetics*
  • Thymine / metabolism
  • Tibial Fractures / diagnosis
  • Tibial Fractures / genetics

Substances

  • Codon
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Cytosine
  • Thymine