Physical Exam Key Points

1. General appearance. Albright hereditary osteodystrophy with pseudohypoparathyroidism (short stature, obesity, round face); large-for-gestational-age infants of diabetic mothers.

2. Skin. Mucocutaneous candidiasis with autoimmune polyglandular syndrome; alopecia with type 2 vitamin D-dependent rickets.

3. HEENT. Facial features of DiGeorge syndrome, laryngospasm, cataracts.

4. Skeletal findings. Evidence of bowing with rickets; short metacarpals and metatarsals with pseudohypoparathyroidism.

5. Neuromuscular exam. Neuromuscular excitability manifested by irritability, facial grimacing, hyperactive deep tendon reflexes, muscular spasms, twitching and tetany, confusion, seizures.

6. Heart. Cardiac abnormalities seen in DiGeorge syndrome.

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