Short Stature

Question 1

Potential diagnoses of short stature

Answer 1

• familial short stature
• constitutional delay of growth
• occult pulmonary, renal or GI disease
• Endocrinopathies
• Genetic disorders

Question 2

Definition of short stature

Answer 2

height

Question 3

One of the most common pathologic diagnoses of short stature is _________

Answer 3

chromosomal abnormalities, primarily Turner syndrome and its variants

Question 4

If physical examination does not suggest a recognizable syndrome then ___________

Answer 4

then chromosome analysis should be performed, which has the added advantage of addressing the potential of mosaicism

Question 5

If chromosome analysis is negative, what other genetic studies can be considered?

Answer 5

• Genomic array studies may be considered to evaluate for changes in genome copy number