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.
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).
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.
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)
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]
-
Proper use of a wall-mounted stadiometer.
-
Comparison of the growth patterns between idiopathic short stature and constitutional growth delay.
-
Bone age comparison between an 8-year-old boy (left) and a 14-year-old adolescent boy (right).
-
Growth chart for Turner syndrome. Note that the upper limit overlaps the range for girls of normal height.
-
A single, central, maxillary incisor reflects a defect in midline facial development.