LIPOCHONDRODYSTROPHY is a familial metabolic disorder in which a macromolecular substance is stored in many tissues and in which the maturation of cartilage is defective. There may be corneal clouding, mental deficiency, partial deafness, reduced vision, hepatosplenomegaly, and cardiac hypertrophy. Involvement of the bone causes dwarfing, kyphosis, and arthrogryposis. The skull is usually enlarged and the nasal bridge depressed. There may be hypertelorism, prominent supraorbital ridges, and prognathism. The skin is coarse, the lips thick, the ears enlarged, and the tongue enlarged and protruding. The hair is coarse and often gray in color.
Dr. John Thompson, of the Royal Infirmary, Edinburgh, recognized the condition in 1900 and called it "Johnny McL.'s disease." In 1908 and 1913, he found the same abnormality in siblings of this patient, and in 1924, he reported the cases to the Edinburgh Pediatric Club.1 Putnam and Pelkan3 credit Berkhan2 with recording the first
NEWELL FW, KOISTINEN A. LIPOCHONDRODYSTROPHY (GARGOYLISM): Pathologic Findings in Five Eyes of Three Patients. AMA Arch Ophthalmol. 1955;53(1):45–62. doi:10.1001/archopht.1955.00930010047005
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