Short Stature Clinical Presentation

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.

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.

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  • 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.

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)

A study by Kärkinen et al indicated that in persons who, after age 3 years, have a height standard deviation score (SDS) below -3, short stature most often has a pathologic cause. Such was the case for 76% of girls and 71% of boys in the report, with causes including syndromes (most frequent etiology; 20% of the total 785 subjects in the study), organ disorders (16%), GHD (12%), small for gestational age without catch-up growth (9%), and skeletal dysplasias (7%). The investigators also found that the greater the severity of short stature and the mismatch with target height, the greater the chance that a growth-related pathology exists, especially a syndrome or skeletal dysplasia. ^[8]