Pediatrics – Stature Abnormalities: By Kyle McNerney M.D.

Pediatrics – Stature Abnormalities: By Kyle McNerney M.D.


Growth complaints are very common, particularly
in pediatrics. Short or tall stature can represent benign
variation or can be an important clue to diagnosing a disease. A careful history and physical and the use
of growth charts can usually distinguish the pathologic causes. Short stature is defined as height 2 standard
deviations below the means. We will look at 4 different growth patterns
and see if they represent physiologic or pathologic short stature. The first pattern shows familial short stature,
where the child’s growth curve is at the low end of the chart, but is tracking appropriately
toward their mid-parental height. This represents a physiologic cause of short
stature. The second pattern shows another physiologic
cause of short stature: constitutional delay of growth. This is when a child’s growth curve decreases
during early adolescence, before exhibiting “catch-up growth” later. Constitutional delay of growth can run in
families, and parents often report being “late bloomers.” A bone age x-ray can aid in determining a
patient’s future growth potential. The third pattern shows pathologic short stature
beginning prenatally, and this is a pathologic form of short stature that requires investigation. Short stature that begins prenatally can have
causes including a genetic/chromosomal disorder such as Trisomy 21, or from intrauterine growth
restriction due to infection, toxin exposure, or metabolic disease. The fourth pattern shows growth failure, or
postnatal onset of pathologic short stature. This child’s short stature is pathologic
due to the crossing of percentile curves. Causes of growth failure include growth hormone
deficiency, Turner syndrome, nutrient deficiency, celiac disease, or the effects of chronic
diseases, such as cystic fibrosis. Tall stature is defined as height greater
than 2 standard deviations above the mean. Most commonly due to familial tall stature,
and the growth curve should be concordant with the mid-parental height. The pathologic causes of tall stature often
have features seen on physical exam. In Marfan’s syndrome, the patient may have
arachnodactyly, pectus deformity, or hyperflexible joints. Patients with growth hormone excess can have
coarse features, enlargement of the jaw, hands, and feet, and skin tags.

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