Anthropometry of patients with osteogenesis imperfecta
Allan M Lunda, Jørn Müllerb, Flemming Skovbya
a Department of
Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100
Copenhagen, Denmark, b Department of Growth and Reproduction,
Rigshospitalet 5064, Blegdamsvej 9, DK-2100 Copenhagen, Denmark
Correspondence to: Dr Lund.
Accepted 6 January
1999
Standing height, sitting height, armspan, subischial leg
length, head circumference, and growth hormone-insulin-like growth factor I (IGF-I) axis were determined in 86 patients with osteogenesis imperfecta. The aim of this study was to determine standing height and
body proportions and their variability among osteogenesis imperfecta
types and collagen defects. Mean standing height was reduced in all
groups of patients, to the greatest extent and variability in
osteogenesis imperfecta type III/IV and in those with qualitative
collagen defects. The mean standing height of patients with
osteogenesis imperfecta was lower than that of their unaffected first
degree family members. Truncal height of patients with osteogenesis
imperfecta was reduced; head size was increased, and this was more
pronounced in patients with osteogenesis imperfecta type III/IV and
qualitative collagen defects than in patients with osteogenesis
imperfecta type I and quantitative collagen defects. Mean
concentrations of IGF-I and IGF binding protein 3 (IGFBP-3) were low,
but most values were within age specific reference values. The
reduction of standing height appears to correlate with osteogenesis
imperfecta type and the type of collagen defect. A relatively short
trunk is typical and head circumference and body length are disproportionate.
Keywords: osteogenesis imperfecta; anthropometry; collagen; body constitution
© 1999 by Archives of Disease in Childhood
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