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I have been privileged to observe over a period of several years a family whose members present a set of clinical manifestations which to my knowledge are unique in ophthalmology. These clinical data pertain first to the skeletal system and secondly to the eye proper. Whether there is a correlation between the general and the local characteristics cannot be stated convincingly.
The family consists of a mother and 7 children—5 females and 2 males. All the offspring except the oldest bear a remarkable resemblance to the mother, who has the facies common to hyperpituitarism. They possess a large heavy-boned framework and exhibit a prominent lower jaw; the cheekbones are high, the orbits widely separated, and the teeth unevenly spaced.
Two of the sisters have been studied in detail from the point of view of the internist, but aside from the diagnosis of "hyperpituitary type" the information
FRIEDMAN B. FAMILIAL RETINAL DEGENERATION LEADING TO DETACHMENT AND CATARACT FORMATION. Arch Ophthalmol. 1939;22(2):271–273. doi:10.1001/archopht.1939.00860080115010
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