Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.
Lowry
R B
RB
Department of Pediatrics, University of Calgary, Alberta, Canada.
Wood
B J
BJ
Cox
T A
TA
Hayden
M R
MR
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000235:genetics*; D004550:Elbow / Q000000981:diagnostic imaging; D004838:Epiphyses; D006615:Hip / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000235:genetics*; D011859:Radiography; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome