Growth Failure Clinical Presentation

Updated: Nov 20, 2016
  • Author: Neslihan Gungor, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Presentation

History

History of those with growth failure should focus on the following areas:

  • Birth weight and birth length: One of the issues in the differential diagnosis is intrauterine growth retardation, which should be apparent from the birth history.
  • Parents' heights: In order to evaluate a child's genetic potential, calculation of the sex-adjusted midparental height (ie, target height) is helpful. The sex-adjusted midparental height is calculated by adding 2.5 inches to (for boys) or subtracting 2.5 inches from (for girls) the mean of the parents' heights; it represents the most statistically probable adult height for the child, based on parental contribution. By calculating the percentile for this midparental target height, one can determine the percentile at which a child's height is expected to track.
  • Timing of puberty in parents: Constitutional delay in growth and maturation may have a family history. Most mothers can remember their age at menarche (average age, 12-12.5 y). Eliciting pubertal history from a father is more difficult because no specific landmark is recognized. Evidence of delayed puberty may include continuing to grow after high school or not shaving until age 20 years or older.
  • Previous growth points
    • The most useful part of a workup for growth failure is observing the growth pattern. Previous growth data may be obtained from physicians' offices, schools, or marks that have been kept on a door or wall at home. The recent increase in the use of electronic medical records has contributed positively in the access to growth data.
    • If the growth rate is normal (approximately 2 inches/y [5 cm/y] from age 3 y to puberty), the cause of the child's short stature is likely one of the normal variants, and the child does not actually have growth failure. It is important to note that infancy and adolescence are the two phases of postnatal growth when crossing length/height percentile lines may be observed due to normal physiology. In the first 2 years of life, an infant's height (length) curve may cross the percentile curves up or down in accordance with the child's genetic potential, moving away from the influences of the intrauterine environment. On the other hand, puberty is characterized by a growth spurt. Therefore crossing of the height percentiles between age 2 and the onset of puberty should be noted by the physician and evaluated as needed.
    • If the growth rate is low, growth failure is present, and a pathological cause for the growth failure is more likely.
    • Children with constitutional delay in growth and maturation often appear to be growing slowly just before the pubertal growth spurt; they may be confused with children who have actual growth failure.
  • The child's general health: Ruling out a chronic disease or poor nutrition as a cause of growth failure is important. Worldwide, malnutrition is probably the most likely cause of growth failure.
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Physical

The following items in the physical examination are targeted toward assessing growth failure:

  • Height (or length) and weight: A determination of weight is not difficult; height (standing) or length (lying down) should be measured with care. Using a single steady stadiometer and obtaining more than one measurement provides accurate values.
    • Taking accurate measurements of length requires attention to the following:
      • An accurate measuring device should be used. For infants, the device should consist of a board with a yardstick attached (or embedded), a stationary head plate, and a movable footplate.
      • Gently stretch the child. The heels, buttocks, shoulders, and the back of the head should touch the base of the device, and the soles of the feet should be perpendicular to the base of the device.
      • Repeating the measurement 2-3 times (and taking an average of these measurements) improves the accuracy of the measurement.
    • When taking height measurements, the following should be addressed:
      • Always have the child barefoot or in stocking feet. The heels, buttocks, and shoulders should be in contact with the wall or the measuring device.
      • The child should be standing with heels together, feet slightly spread.
      • The child should look straight ahead. This is called having the head in the Frankfurt horizontal plane, which is a plane represented in the profile by a line between the lowest point on the margin of the orbit and the highest point on the margin of the auditory meatus.
      • At the time of the measurement, have the child hold a deep breath.
      • Use proper equipment. The ideal device for height measurement is a stadiometer, which may be mounted on the wall, with an arm that moves vertically. The arm is placed on the head, and the height can be read from a counter or from a ruler on the wall. If a stadiometer is not available, good height measurements may be obtained from a yardstick (or meter stick) attached to the wall and a device that makes a right angle with the wall and the child's head. The floppy arm devices mounted on weight scales are inherently variable and frequently yield inaccurate measurements. A height measurement can be determined using this device, but even more attention is required.
      • For precise height determinations, measure the child 2-3 times and take the mean. If the first 2 measurements agree, they should be considered accurate.
      • In order to minimize diurnal variation in height, always measure the child at the same time of day.
  • Proportionality: Inspect the child for proportionality of limbs and trunk. If disproportion is suspected, the following measurements may be taken:
    • Arm span: Measure outstretched arms from fingertip to fingertip. In children of European origin, the arm span should approximate the height. In comparisons of people of Asian, European, and African heritage, Asians had proportionally shorter arms, Europeans had intermediate-length arms, and Africans had significantly longer arms.
    • Lower segment (LS): Measure from the symphysis pubis to the floor.
    • Upper segment (US): Subtract the LS from the height.
    • The US/LS ratio is calculated by dividing the US by the LS. In children of European origin, this ratio is about 1.7 at birth and decreases to 1 at about age 10, where it remains throughout adulthood. In comparisons of people of Asian, European, and African heritage, Asians had proportionally shorter legs (therefore, larger US/LS ratios), Europeans had intermediate length legs, and Africans had significantly longer legs.
  • Pubertal status: Puberty should be staged using the Tanner staging system. In constitutional delay as well as many pathological causes of short stature (including growth hormone [GH] deficiency), puberty is delayed.
  • Look for signs of specific syndromes: Numerous specific syndromes include short stature and slow growth velocity.
    • For Turner syndrome, look for webbing of the neck (pterygium colli), a wide carrying angle (cubitus valgus), a low hairline, a high-arched palate, short fourth metacarpals, and multiple nevi.
    • Noonan syndrome and Russell-Silver syndrome, among others, should be considered.
    • Examine for disproportion of limbs to trunk when considering the possibility of skeletal dysplasias.
    • Other syndromes may be present as well.
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Causes

The following are possible causes of growth failure (slow growth velocity):

  • Familial short stature: Children with familial short stature have a history of parents with short stature. They have a normal growth velocity (thus, they do not exhibit true growth failure). Bone age is not delayed. These children have puberty at a normal time and most often finish their growth with a short adult height. [5]
  • Constitutional delay in growth and maturation: This entity is sometimes called delayed puberty. Children with constitutional delay have a normal birth weight, and during the first year of life, their growth slows. For most of the period of linear growth (approximately age 3 y to puberty), they maintain an adequate growth velocity. Bone age is usually delayed, and puberty is late, giving a longer time for prepubertal growth, which usually results in a normal adult height. Children with constitutional delay may have a family history of the same. Usually, these children do not exhibit growth failure (a slow growth velocity); however, a period of slow growth velocity usually occurs during the first year of life, and, just before the onset of puberty, growth velocity is again slow (especially when compared with peers who are in the midst of their pubertal growth spurt). [6]
  • Malnutrition: Worldwide, malnutrition is probably the most common cause of growth failure and is usually poverty related. In developed countries, nutritional deficiencies are more often the result of self-restricted nutrient intake. Often, poor weight gain is more striking than short stature.
  • Chronic disease, systemic disorders
    • Nervous system: Microcephaly may be a feature.
    • Circulatory system: Cyanotic heart disease may be present.
    • Gastrointestinal system: Gluten enteropathy (celiac disease), ulcerative colitis, or regional enteritis (Crohn disease), disorders involving the liver may be present. In inflammatory bowel disease (in particular, Crohn disease), the growth failure may be apparent before other symptoms appear.
    • Renal disease: Chronic renal failure, renal tubular acidosis. In children, growth failure may precede the diagnosis of chronic renal failure.
    • Lungs: Cystic fibrosis or severe asthma may be present.
    • Connective tissue/rheumatologic problems: Conditions such as dermatomyositis or systemic-onset juvenile idiopathic arthritis (JIA) may be present.
  • Psychosocial dwarfism
  • Chromosomal abnormalities: In particular, Turner syndrome (45,X) and Down syndrome (trisomy 21) have growth failure as a part of the syndromes. Growth charts specific for these syndromes are available. Short stature homeobox-containing gene (SHOX) mutations, haploinsufficiency, or complete absence are associated with growth retardation (OMIM #300582). The SHOX gene is found in the pseudoautosomal region of the X and Y chromosomes. Individuals with SHOX mutation tend to have mesomelic growth retardation (shorter forearms and lower legs), Madelung deformity of the forearm (focal dysplasia of the distal radial physis), cubitus valgus, high arched palate and muscular hypertrophy (short, stocky appearance). SHOX mutations are present in approximately 1-4% of patients who would otherwise have been classified under the category of idiopathic short stature [7] .
  • Other syndromes (nonchromosomal): Syndromes that have growth failure as a feature include Noonan syndrome, Russell-Silver syndrome, and Prader-Willi syndrome.
  • Target tissue defects
    • Intrauterine growth retardation: The category of intrauterine growth retardation describes children who have birth weights less than 5.5 lb at full term or who are small for gestational age (SGA) if born preterm. Numerous etiologies for this condition are contained in this category, including fetal alcohol syndrome and placental insufficiency syndromes. In some of these conditions, spontaneous "catch-up" growth occurs, while in others, growth rate remains slow. Overall, 10% of children who are SGA have not caught up in growth by age 2 years.
    • Bone and cartilage disorders: The most common disorder of bone and cartilage is achondroplasia, which is recognizable by frontal bossing, lumbar lordosis, and short limbs. Other skeletal disorders are less easily recognized, such as hypochondroplasia, which may be diagnosed radiologically. Patients with hypochondroplasia also have short limbs, but the disproportion is subtle and may be apparent only with careful measurements of arm span and US and LS. Both of these disorders are due to mutations of the fibroblast growth factor receptor 3.
  • Endocrine causes
    • Thyroid hormone deficiency (hypothyroidism): Thyroid hormone is absolutely necessary for normal growth. With hypothyroidism, the growth rate is extremely slow, and with replacement of thyroid hormone, catch-up growth is rapid. Although hypothyroidism is often suspected based on history and physical examination findings, cases have also been reported in which the signs and symptoms are subtle. Because of the possibility of subtle signs, evaluation of thyroid hormone levels in all children with slow growth is advised.
    • Growth hormone deficiency: Children who are growth hormone deficient have normal proportions but may appear younger than their age. They have delayed skeletal maturation. Although growth hormone deficiency may be suspected because of damage or malformation of the pituitary gland, in most children diagnosed with growth hormone deficiency, the etiology is idiopathic.
    • Growth hormone insensitivity (primary IGF-1 deficiency): Sometimes called Laron dwarfism, this disorder appears to be similar to growth hormone deficiency, except that large amounts of growth hormone are produced but levels of IGF-1 are low. This is a rare condition, except in populations where the gene is present with a greater frequency (eg, in Ecuador).
    • Glucocorticoid excess (Cushing syndrome, Cushing disease): Children with glucocorticoid excess almost always have growth failure as part of the presentation.
    • Androgen excess: When prepubertal children are exposed to excessive amounts of androgen, the growth velocity increases in the short term, but epiphyseal fusion occurs early, resulting in premature slowing of growth velocity, usually resulting in a short adult height. Causes of androgen excess include exposure to exogenous androgen, precocious puberty, and congenital adrenal hyperplasia.
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