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https://emedicine.medscape.com/article/
924411-clinical#showall
Growth failure (GF) is often confused with short stature
GF is a pathologic state of abnormally low growth
rate over time, whereas short stature is often a
normal variant
Regardless of the genetic background, short stature may
be a sign of a wide variety of pathologic conditions
Short Stature or inherited disorders.
accurate longitudinal growth assessment is a fundamental
aspect of health maintenance in children.
Overview
Practice Essentials Reviewing the patient's growth chart is critical to evaluating
short stature.
In addition, analysis of the prior growth pattern helps
distinguish normal growth from pathologic variants of short
stature.
Compared with a well-nourished, genetically relevant
population, short stature is defined as a standing
height > than 2 SDs below the mean (or below the 2.5
Short Stature percentile) for sex
Skeletal maturation is typically determined by the
Overview bone age, which is assessed using anteroposterior
Practice Essentials radiography of the left hand and wrist.
Short Key data to obtain for the evaluation of short stature
Stature child's weight & length at birth
prior growth pattern
final (or current) heights & weights of parents, siblings,
Clinical Presentatyion & grandparents.
History
Review of symptoms by organ system provides
additional clues to the etiology underlying short
stature.
Short
• GI
Stature • Diarrhea, flatulence, or borborygmi (frequent,
discomforting, or even audible peristalsis)
suggest malabsorption.
• Vomiting can suggest an eating disorder or a
Clinical Presentation
CNS disorder (eg, dysgerminoma).
History • Consider dietary intake and composition. In
particular, ask about intake of carbonated
beverages, juices, and other casual intake.
• Pain or abdominal discomfort
suggests inflammatory bowel diseases.
Review of symptoms by organ system provides
additional clues to the etiology underlying short
stature.
Short • Cardiac disease: Signs include peripheral edema,
murmurs, and cyanosis.
Stature • Chronic infections: Poor wound healing and
opportunistic infections are signs of potential
immune deficiency.
Clinical Presentation • Pulmonary
History • Sleep apnea can be a cryptic cause of short
stature.
• Other chronic diseases that may result in short
stature include severe asthma associated with
chronic steroid use and cystic
Review of symptoms by organ system provides
additional clues to the etiology underlying short
stature.
Clinical • Neurologic
Presentation • Visual field deficits often herald pituitary
neoplasms.
• Vomiting, early morning nausea, polyuria, or
polydipsia is often associated with masses of
the CNS.
History
• Renal
• Polyuria and polydipsia are important symptoms
of hypothalamic and pituitary disorders.
• Chronic renal disease is a common cause of
growth failure (GF).
Measure standing height in triplicate using a
calibrated wall-mounted stadiometer
• in infants, length is determined in triplicate using a
Clinical tabletop recumbent stadiometer.
• The mean value of the triplicate data serves as the
Presentation true measurement
In children who cannot completely stand or recline
(eg, those with spina bifida, those with
contractures), arm span provides a reliable
Physical alternative for longitudinal assessment of long
bone growth.
• Ascertain arm span by facing the child against a flat
firm surface (usually the wall), fully extending the
arms, and measuring the maximal distance between
the tips of the middle fingers.
• Documenting growth velocity over time complements
the initial height assessment.
• Calculate growth velocity as the change in standing
Clinical height over at least 6 months (in children) or in length
Presentation over at least 4 months (in infants).
• Poor linear growth is defined as linear growth velocity
more than 2 SDs below the mean for gender, genetic
composition, and chronologic age
Physical • Weigh all patients.
• In infants, determine the fronto-occipital circumference
• In patients in whom short-limb dwarfism is suspected,
the sitting height can be obtained by measuring the
upper body segment, or crown to pelvis, as the child
sits upright on a platform-mounted stadiometer (or on
Clinical the floor with a wall-mounted stadiometer).
• Alternatively, the lower segment can be
Presentation determined by measuring from the superior
midline brim of the symphysis pubis to the
floor, with the child standing (feet placed
together).
• The upper-to-lower segment ratio (US/LS)
Physical should be close to 1.
• The ratio is more than 1 in children with
shortened limbs, as it is in individuals with
hypochondroplasia or achondroplasia
• Palpate for thyroid enlargement and firmness, which can
be associated with Hashimoto thyroiditis, the most
common cause of acquired hypothyroidism.
Clinical • Test visual fields for signs of pituitary and hypothalamic
tumors, initially by gross confrontation.
Presentation • Inspect fourth metacarpals, which are shortened in
persons with pseudohypoparathyroidism, Ullrich-
Turner syndrome, and Albright hereditary
Physical osteodystrophy.
• Fifth finger clinodactyly is seen in Silver-Russell
syndrome
The nonendocrine causes of short can be divided into 3
Clinical major categories, as follows:
• Constitutional delay of growth and sexual development
Presentation • Familial short stature
• Chronic diseases of childhood: Among the chronic
conditions, malnutrition remains the leading cause of
Causes short stature worldwide
Clinical Genetic causes of short stature are as follows:
Presentation • Down syndrome (trisomy 21)
• Ullrich-Turner syndrome (45,XO)
• Lerí-Weill dyschondrosteosis (SHOX gene)
Causes
Levels of insulinlike growth factor-I (IGF-I)
useful tests for growth hormone deficiency (GHD)
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