[Kniest's syndrome. Two cases with psychomotor retardation (author's transl)].
Two cases are presented, a female and a male, with a clinical and radiological picture which can be included in Kniest's syndrome. Both patients showed significant psychomotor retardation. The boy presented bilateral glaucoma. The osseous biopsy of the girl showed many large sized chondrocytes in the cartilagenous tissue surrounded by clear lacunae and immersed in a loose matrix giving them the appearance of Swiss cheese.
D001842:Bone and Bones / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D011596:Psychomotor Disorders / Q000175:diagnosis*; D011859:Radiography; D013577:Syndrome
Síndrome de Kniest. Presentación de dos casos con retraso psicomotriz.