Edition.
Terms in this set (69)
Intramembranous Microenvironment in which ossification occurs
ossification differs from
endochondral ossification
in which of the following
ways?
A 7-year-old boy is Decreased interstitial growth of chondroblasts in the epiphyses
referred to the
endocrine clinic with
short stature,
rhizomelic shortening of the
arms and legs, a
disproportionately long
trunk,
trident hands, midfacial
hypoplasia,
prominent forehead
(frontal bossing),
thoracolumbar gibbus,
and
megalencephaly.
Radiological examination by
MRI reveals caudal
narrowing of the
interpedicular spaces of
T1 and T2 vertebrae
and spinal stenosis at L2-
L4. Genetic analysis
reveals a gain of function
mutation, G1138A, in the
fibroblast growth factor
receptor-3 (FGFR3), band
,4p16.3. His parents are
requesting the initiation of
treatment with growth
hormone. The
endocrinologist is
concerned about harmful
growth hormone effects:
deposition of abnormally-
formed bone and worsening
of the patient's
kyphoscoliosis. During this
child's postnatal
development, which of the
following
is the most likely effect of the
FGFR-3 gene mutation?
,The molecular basis for Hydration of glycosaminoglycans
shock absorption within
articular cartilage is
which of the following?
A 16-year-old girl presents to Alkaline phosphatase
the pediatric genetic and
endocrine clinic
with short stature,
Tanner stage 2 of
pubertal development
and lack of
menstruation.
She is 49 in. tall (normal
range for age is 59-68 in.
mean 64 in.) and
weighs 65 lb (normal
range for age is 92- 158 lb,
mean is 126 lb.). She has
a
short, broad, webbed
neck, short fingers and
toes, and cubitus valgus.
Hormonal profile reveals
high levels of the
gonadotrophins LH and
FSH, and very low levels of
estrogen. Ultrasound
studies show uterine
hypoplasia and
poorly-defined gonadal
streaks. Genetic analysis
shows a 45, X0 pattern.
The
short stature has been
linked to reduced protein
expression of the short
stature homeobox gene
, (SHOX). That gene working
through specific
transcription
factors would influence the
production of which of the
following by
the cells delineated by the
box in the accompanying
photomicrograph.