Retinal involvement in thoracic-pelvic-phalangeal dystrophy.
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.
D000886:Anthropometry; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005071:Evoked Potentials; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D010384:Pelvic Bones / Q000002:abnormalities; D010808:Physical Examination; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000209:etiology*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities