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April 1965

Familial Dwarfism And "Stiff Joints": Report of a Kindred

Author Affiliations


From the Department of Medicine (Endocrine Unit) Massachusetts General Hospital and Harvard Medical School. Clinical and Research Fellow in Medicine, Massachusetts General Hospital, Trainee, National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, United States Public Health Service (Dr. Moore); Associate in Medicine, Harvard Medical School; Assistant Physician, Massachusetts General Hospital (Dr. Federman).

Arch Intern Med. 1965;115(4):398-404. doi:10.1001/archinte.1965.03860160024004

REPORTS of familial dwarfism associated with limitation of joint motion are rare in the North American literature. This paper describes six members of three generations of a family showing short stature, stiff joints, normal intelligence, and varying degrees of hyperopia, glaucoma, asthmatic bronchitis, and hepatomegaly. The pedigree (Fig 1) suggests an autosomal dominant pattern of inheritance.

Report of Case 

Case III, 2.*  —The proband (MGH No. 123-79-74) was 45 years old when he entered the Massachusetts Eye and Ear Infirmary in 1962 because of decreasing vision. At 38 he had had a serious retinal detachment of the left eye. Glaucoma developed at age 43 and was treated with drugs and two operations, the latter achieving normal pressures. A retinal detachment in the right eye with spontaneous reattachment occurred in 1961, and a cataract extraction was done on the right eye in June of 1962. A further retinal detachment occurred, however,

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