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| Case 1 Presentation |
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Prior laboratory evaluation included measurement of electrolytes, complete blood count, erythrocyte sedimentation rate, albumin level, thyroid and liver function tests, immunoglobulin levels, and endomysial antibodies, all of which were normal. Urinalysis, fecal fat assay, and sweat test gave normal results.
On physical examination, the patient is a well-appearing, charming child,
obviously small for his age. His weight is 6.43 kg (50th percentile for a
4-month-old), height is 67 cm (50th percentile for a 5-month-old), and head
circumference 44.5 cm (5th percentile). He has a triangular face, with a
prominent forehead, slight hypertelorism, and turned-down mouth corners
(Figure
).
Bilateral
syndactyly of the second and third toes is noted. Findings on the remainder
of the physical examination are normal. His chromosomal pattern is normal,
and his insulin-like growth factor (IGF-1) level is 59 ng/mL (normal, 17 to
248 ng/mL). His bone age is delayed by 1.5 standard deviations of normal.
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At follow-up at 18 months of age, the boys growth parameters are
unchanged despite being
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