Abstract
A patient with typical thoracic-pelvic-phalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.
MeSH terms
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Anthropometry
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Bone Diseases, Developmental / complications*
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Bone Diseases, Developmental / diagnosis
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Child
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Child, Preschool
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Electroretinography
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Evoked Potentials
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Female
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Fingers / abnormalities
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Humans
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Macular Degeneration / diagnosis
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Macular Degeneration / etiology*
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Macular Degeneration / physiopathology
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Pelvic Bones / abnormalities
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Physical Examination
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Retina / physiopathology
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Retinal Degeneration / etiology*
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Syndrome
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Thorax / abnormalities