Objectives: To describe the growth and nutritional status of a pediatric po
pulation with Bloom syndrome.
Study design: Longitudinal growth data from 148 patients in the Bloom's syn
drome Registry (85 male, 63 female) were compiled retrospectively from phys
ician and parent records to develop graphed statistics of weight-for-age, h
eight-for-age, fronto-occipital circumference-for-age, and weight-for-heigh
t for both sexes with comparisons with the normal population.
Results: Term birth measurements confirm that the growth deficiency of Bloo
m syndrome has prenatal onset. Stunting persists throughout life, and an ad
olescent growth spurt is not apparent from the smoothed data. Growth contin
ues by at least 1 cm/yr until age 21 years for both sexes. More than half o
f children with Bloom syndrome are significantly wasted until age 8 years,
which is not related to early death or underlying malignancy. The mean body
mass index for adults with Bloom syndrome after age 25 years is low normal
(n = 22, mean = 20.2 kg/m(2)).
Conclusions: Children with Bloom syndrome have significant growth retardati
on and wasting.