This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (33)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Pathologic Findings in Five Eyes of Three Patients

FRANK W. NEWELL, M.D.; AüNE KOISTINEN, M.D.

AMA Arch Ophthalmol. 1955;53(1):45-62.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

Author Affiliations
CHICAGO; HELSINKI, FINLAND

From the University of Chicago Foundation for Ophthalmic Research.; Institute of International Education exchange graduate student in ophthalmology (Dr. Koistinen).

Footnotes
Read before the Section on Ophthalmology at the 103rd Annual Meeting of the American Medical Association, San Francisco, June 24, 1954.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?