Abstract
Two unrelated patients with thoracic-pelvic-phalangeal dystrophy syndrome had retinal degeneration. A pathologic study of both eyes from one of the patients showed severe degeneration of the peripheral retina, with predominantly cone-type cells remaining.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple* / diagnosis
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Bone and Bones / abnormalities*
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Child
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Child, Preschool
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Female
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Fingers / abnormalities
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Fluorescein Angiography
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Humans
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Infant
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Infant, Newborn
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Male
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Pelvic Bones / abnormalities
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Retinal Degeneration / complications*
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Retinal Degeneration / diagnosis
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Retinal Degeneration / pathology
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Strabismus / complications
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Syndrome
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Thorax / abnormalities*
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Toes / abnormalities