Short Stature Clinical Presentation

Updated: Feb 23, 2017
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Robert P Hoffman, MD  more...
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Presentation

History

Key data to obtain for the evaluation of short stature include the child's weight and length at birth; prior growth pattern; and the final (or current) heights and weights of parents, siblings, and grandparents.

  • Whenever possible, obtain the original birth records to document length, weight, and fronto-occipital circumference at birth.
  • Assessing the heights of both parents is absolutely essential.
  • Generally, men overreport their height, and women underreport their weight.
  • Ideally, measure each parent’s height in the clinic for optimal calculation of the mid-parental target height, according to one of several formulas, among which the author prefers the following:
  • Target height in cm for a girl = [mother's height in cm + (father's height in cm - 13)]/2
  • Target height in cm for a boy = [(mother's height in cm + 13) + father's height in cm)]/2

Document pubertal timing in first-degree relatives.

  • At a minimum, determine the age at onset of menarche for the child's mother and the age of adult height attainment for the father.
  • Most parents can usually recall these 2 milestones, which have proven reliable predictors of pubertal timing and tempo in parent-child pair studies of puberty.

Review of symptoms by organ system provides additional clues to the etiology underlying short stature.

  • GI
    • Diarrhea, flatulence, or borborygmi (frequent, discomforting, or even audible peristalsis) suggest malabsorption.
    • Vomiting can suggest an eating disorder or a CNS disorder (eg, dysgerminoma).
    • 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.
  • Cardiac disease: Signs include peripheral edema, murmurs, and cyanosis.
  • Chronic infections: Poor wound healing and opportunistic infections are signs of potential immune deficiency.
  • Pulmonary
    • 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 fibrosis (CF).
  • Neurologic
    • Visual field deficits often herald pituitary neoplasms.
    • Vomiting, early morning nausea, polyuria, or polydipsia is often associated with masses of the CNS.
  • Renal
    • Polyuria and polydipsia are important symptoms of hypothalamic and pituitary disorders.
    • Chronic renal disease is a common cause of growth failure (GF).
  • Social
    • Participation in sports that require weight control (eg, wrestling, crew, gymnastics) may be associated with anorexia nervosa or bulimia induced by the patient, peers, or coaches.
    • Growth is often impaired in refugees and in children emerging from foster care or certain international adoption settings.
    • The growth pattern with adequate nutrition in a loving environment over time is critical to distinguish pathologic GF from normal variant short stature in such patients.
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Physical

Endocrinologists rely heavily on accurate and reliable height assessment.

  • Measure standing height in triplicate using a calibrated wall-mounted stadiometer.
    • Although no particular brand is endorsed, one well-accepted device is available from Harpenden Ltd of Wales (see image below).
      Proper use of a wall-mounted stadiometer. Proper use of a wall-mounted stadiometer.
    • In infants, length is determined in triplicate using a tabletop recumbent stadiometer.
    • The mean value of the triplicate data serves as the true measurement.
  • In children who cannot completely stand or recline (eg, those with spina bifida, those with contractures), arm span provides a reliable 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.
    • If this positioning is physically impossible, a flexible tape measure may be rolled along the dorsal aspect of the arms and upper back to determine arm span.
  • Documenting growth velocity over time complements the initial height assessment.
    • Calculate growth velocity as the change in standing height over at least 6 months (in children) or in length 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.
  • 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 the floor with a wall-mounted stadiometer).
    • Alternatively, the lower segment can be 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) 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.
  • Test visual fields for signs of pituitary and hypothalamic tumors, initially by gross confrontation.
  • Inspect fourth metacarpals, which are shortened in persons with pseudohypoparathyroidism, Ullrich-Turner syndrome, and Albright hereditary osteodystrophy. Fifth finger clinodactyly is seen in Silver-Russell syndrome.
  • Inspect mucous membranes for ulcerative stomatitis, typical of Crohn disease and various trace mineral and vitamin deficiencies.
    • Pretibial ulcerations are also observed in persons with Crohn disease and ulcerative colitis.
    • Rectal tags and clubbing are also typical in individuals with Crohn disease.
  • Confirm the history with direct measurements whenever possible. For example, measure both biologic parents' heights during the clinic visit.
  • Both the arm span and US/LS ratio can be informative regarding the cause of short stature. Patients with short-limb dwarfism usually have an US/LS ratio that remains above 1.3. Newborns typically display a ratio of 1.7, which gradually drops to approximately 1 during prepubertal growth and remains close to 1 in adulthood.
  • Arm span also reveals a decrement in growth, which is otherwise indiscernible in a child with spinal deformation (eg, myelomeningocele).
  • Carefully examine the midface.
    • A single, central, maxillary incisor reflects a defect in midline facial development.
    • Similarly, a bifid uvula suggests the possibility of a submandibular cleft palate, which may be palpable, yet not visible on inspection.
    • Associated anomalies of midline structures, such as the pituitary gland, are common in patients with major midline facial anomalies.
    • Growth hormone deficiency (GHD) or panhypopituitarism should be considered as a cause of short stature in such patients.
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Causes

The nonendocrine causes of short stature (see Other Problems to be Considered) can be divided into 3 major categories, as follows:

  • Constitutional delay of growth and sexual development
  • Familial short stature
  • Chronic diseases of childhood: Among the chronic conditions, malnutrition remains the leading cause of short stature worldwide.

Genetic causes of short stature are as follows:

  • Down syndrome (trisomy 21)
  • Ullrich-Turner syndrome (45,XO)
  • Lerí-Weill dyschondrosteosis ( SHOX gene)
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