Bone and joint manifestations of Rieger's syndrome: a report of a family.
Rieger's syndrome is a disease characterized by ocular anomalies usually associated with glaucoma but very rarely with bone and joint abnormalities. In three cases in a family with Rieger's syndrome, the proband was a 6-year-old girl, with involvement of her 9-year-old sister and 39-year-old father. The skeletal abnormalities found in these three individuals were a prominent posterior clinoid process (sella turcica), hypoplasia of the maxilla and the mandibula, pseudoepiphyseal center of the metatarsus and the metacarpus, and irregular ossification of the femoral head, the distal femoral, and distal tibial epiphyses and the short second and fifth metatarsi.
Koshino
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Department of Orthopaedic Surgery, Yokohama City University School of Medicine, Japan.
Konno
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Ohzeki
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D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D004838:Epiphyses / Q000002:abnormalities; D005124:Eye Abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities