Short Stature - an Approach

Dr Swati Joshi
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Clinical Evaluation
While assessing a child with short stature, we should try to answer the following questions:

Is the child is really short?
(Children may be referred to a clinic with a mistaken view of their height). Accurate measurement of height is essential to know whether the child is short. Also because small fallacies in height measurements may get amplified while calculating growth velocities, height should be measured on stadiometer (or similar equipment). Shoes are to be removed & patient is made to stand straight with heels, buttocks, back & occiput touching the vertical support, the head being positioned so that Frankfurt plane (line joining the inferior margin of the orbit to external auditory meatus) is parallel to the ground.
Supine length is taken in children below 2 years of age with an infantometer.

Is the child growing slowly?
Serial height measurements at 3-6 monthly intervals should done to know the annual growth velocity. Retardation of growth velocity is the hallmark of postnatal pathologic short stature.

Is he a normal variant short stature?
Familial short stature (FSS)
A child who has FSS is short for general population but is normal for the family pedigree. The birth length tends to be small. The child's projected adult height falls within the mid parental height range. The bone age & growth velocity are normal. Growth proceeds along a channel below but parallel to the 3rd percentile curve. The final height of such a child will be short. Short

Constitutional growth delay (CGD)
Typically, the child with CGD, is a normal looking child who is described as a 'late bloomer'. There is often a family history of father being short as a child & experiencing a late pubertal spurt. The bone age is delayed & corresponds to the height age. The birth length is normal but typically slows down to fall below 5th percentile in the first three years of life. Although puberty is delayed, the final adult height and sexual development are normal.

Silent features of Normal Variant Short Stature
 
FSS
CGD
Sex
-
Commoner in boys
Birth Height
Less
Normal
Family History
History of short stature -positive
Delayed puberty especially in father
Growth Velocity
Growth Velocity
Growth Velocity normal for bone age.
Bone Age
Normal
Slight delay / BA = HA
Final adult height
short
Normal



HISTORY

ETIOLOGY

History at 
Presentation
Fever, weight loss, anorexiaChronic infection
Chronic diarrhea/ bulky frothy stoolsMalabsorption
Dyspnea, cough, cyanosisAsthma, TB, CHD
Headache/ vomiting/ diplopiaIntracranial tumors (Craniopharyngioma) 
polyuria, polydipsiaDiabetes insipidus, mellitus, RTA
Weight gain, obesity
Cushing's syndrome
Constipation, delayed milestones, lethargyHypothyroidism
Birth HistoryLow birth weightIUGR, dysmorphic syndromes
Birth asphyxia, breech presentation, Neonatal hypoglycemia, icterusGrowth Hormone Deficiency
Dietary HistoryPoor protein caloric intakeMalnutrition / Rickets
Family HistoryShort stature in sibs/parents/cousinsFSS
Delayed pubertyCGD
PsychosocialEmotional problemsPsychosocial dwarfism

EXAMINATION

ETIOLOGY

Increased respiratory rateCHD, Asthma, IEM (acidosis)
Increased BPCushing syndrome, CNS tumors, CRF
PallorChronic anemia, CRF, Hypothyroidism
RicketsNutritional Vit D def, 
RTA
Disproportionate Body proportionsSkeletal dysplasias, Rickets
Decreased Weight for heightMalnutrition
Frontal bossing, midfacial crowding, micropenis, truncal obesityGrowth hormone deficiency
Coarse skin, delayed relaxation of jerks, + goitre, bradycardia
Hypothyroidism
Papilledema, visual field defectsTumors- craniopharyngioma
Central obesity, striae, hypertension
Cushing syndrome
Female with webbed neck, cubitus valgus, shield chestTurner syndrome
ale / female with triangular facies, webbed neck, ptosis, pectus excavatum & pulmonary stenosisNoonan Syndrome
Small triangular facies, hemihypertrophy, clinodactylyRussel Silver syndrome
Bird headed dwarfism with small face, large eyes, microcephaly & micrognathiaSeckel syndrome
Brachycephaly, simian crease, large tongueDown's syndrome


If the clinical assessment is suggestive of a particular etiology for short stature, one should proceed towards doing tests to confirm the diagnosis. However, if there are no clues on history/ examination, which is often the case, certain screening tests are advisable in these patients.

The following algorithm would be useful for future evaluation
Short Stature



Short Stature - an Approach Short Stature - an Approach 02/23/2001
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