Skeletal dysplasia or osteochondrodysplasia is the designation of more
than 200 different disorders, that are characterized by abnormalities
of the skeleton, disproportional short stature, and a variety of othe
r problems. The underlying biochemical defect is unknown in the vast m
ajority of skeletal dysplasias, and the diagnosis is based on radiolog
ical findings and anthropometric measurements. Despite this fact, the
information on body proportions in even the more common forms of skele
tal dysplasia is scarce. Patients with achondroplasia are often diagno
sed shortly after birth. Linear growth is severely compromised with re
latively short extremities. Head circumference is above normal and fin
al height ranges from 115 to 145 cm in males and 112 to 137 cm in fema
les. Individuals with hypochondroplasia may go unnoticed until puberty
, at which time the growth problem becomes obvious. Sitting height to
height ratio is increased, but the body disproportion may not be appar
ent until puberty. Final height has been reported between 118 and 165
cm. Spondyloepiphyseal and spondylometaepiphyseal dysplasias are chara
cterized by severe impairment growth both in trunk and extremities, th
erefore the sitting height to height ratio may be normal. Final height
is severely reduced and ranges from 94 to 132 cm. It is concluded tha
t anthropometric studies of patients with skeletal dysplasia are neede
d. More quantitative information on body proportions may assist in the
diagnostic procedure and ensure that growth promoting therapy, e.g. g
rowth hormone, does not worsen the disproportion.