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Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD; John W. Mace, MC, USN; Earl Peters, MC, USN
Am J Dis Child. 1968;116(5):525-526. doi:10.1001/archpedi.1968.02100020529012.
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Denouement and Discussion 

Diastrophic Dwarfism 

Manifestations  The major manifestations are short limb dwarfism, thickened ear cartilage, distinctive deformity of the hands, club feet, limitation of mobility of joints, progressive scoliosis, and normal intelligence.At birth the ears may have a bullous swelling which becomes cartilaginous, thickened, and eventually may mineralize. The hand deformity consists of short fingers with ulnar deviation and extension contractures of the interphalangeal joints. The thumb is hypermobile with a proximal insertion and is often subluxed in a so-called "hitchhiker" position. The toes are short and there is often a wide separation between the great and second toes. The limbs are short with more distal than proximal involvement. Bilateral hip dysplasia and dislocation are frequently present. The scoliosis appears early in life and becomes progressive. A cleft palate is present in about half of the cases.The x-ray films show a characteristic small oval-shaped first metacarpal.


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