Schwachman-Diamond

Physical Exam
• 36.4 HR 162 RR 22 BP 73/49
• Weight: 2.06kg (BW 1.54, DW 2.239)
• HC: 32cm Length: 48cm
• HEENT:
– normal set ears, no dysmorphic facies, dry mucus membranes, fontanelle slightly sunken, no cataracts
• CV:
– tachycardic, no murmur, + femoral pulse bilat
• Pulm:
– no wheezing noted, no retractions
• Abdomen:
– distended but soft, no organomegaly, hyperactive bowel sounds
• GU:
– Normal
• MSK:
– poor muscle bulk, clunk noted on left hip, lower extremity and sacral edema
• Neuro:
– symmetric exam, reflexes intact
• Skin:
– Erythematous diaper rash, dry skin, pallor