Two Children With Short Stature and Other Anomalies: Two Separate Diagnoses

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Patient 1 was noted to have puffy feet (Figure 1A) and redundant neck skin (Figure 1B) in the neonatal nursery. She had normal development and facial appearance (Figure 1C). Her height was in the 3rd percentile; weight and head circumference were at the 25th percentile for age. School performance was above average.

Patient 2 had an unexplained edema in the nursery (Figure 2A). stay with some later concerns about motor and language development. She had an unusual facial appearance that changed with age (Figure 2B and 2C), with broad neck, lax joints, and indented chest (pectus excavatum). Her IQ was measured at 70 to 80, and she required some special education classes. Height, weight, and head circumference were at the 3rd percentile for age.

What diagnoses are most likely? What confirmatory tests would you order? What are the usual complications associated with these conditions

(Answers on next page.)