QUESTION 3:
A 9-month-old girl had low muscle tone, delayed motor milestones, and failure to gain weight. Her family and gestational histories were normal except that her mother was age 38 years at the time of pregnancy. At birth, she had significant hypotonia that necessitated tube feeding for a few days, but she was able to bottle-feed by the time of NICU discharge at age 7 days. On current examination, she appeared alert with good interaction and babbling. Facial appearance was slightly unusual, with almond-shaped eyes, down-turned corners of the mouth, and bitemporal hollowing. She also has somewhat unusual genitalia, with hypoplastic labia that make the clitoris easily visible. A diagnosis of Prader-Willi syndrome was made.  | |
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