成骨不全症：二病例報告

成骨不全症是第一型膠原蛋白異常的一種少見的遺傳性代謝疾病。茲提出兩個在本院出生之病例的臨床觀察與一病例之病理所見。病例一為Sillence ⅡA型，臨床以胎內骨折、關節鬆脫、藍色鞏膜表現；X光檢查頭骨鈣化不全，肋骨呈串珠狀，兩側股骨摺皺呈手風琴狀。病理組織顯示長骨骨小樑少且極度不成熟，PAP染色顯示I型collagen明顯減少。病例二為Sillence Ⅲ型，臨床以胎內三處骨折，下肢短小，鞏膜顏色正常表現；X光檢查肋骨細長且右側第八根有骨痂，左側股骨有一新骨折和骨痂。吾人希望能藉周產期醫學之進步，而能提早診斷，以減少此一遺傳病之發生。

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並列摘要

Osteogenesis imperfecta (OI) is a heterogenous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. We report 2 cases with a clinical diagnosis of OI. The first case was classified as Sillence type ⅡA. He was delivered at 38 weeks' gestation with severe bowing of long bones, blue sclera and craniotabes at birth. Radiographs showed severe generalized osteoporosis, broad and crumpled long bones, beading ribs and poorly mineralized skull. Histological examination of the long bones revealed the trabecula of the calcified cartilage with an abnormally thin layer of osteoid & the bony trabeculae were thin and basophilic. The second case was classified as Sillence type Ⅲ. She was delivered at 39 weeks' gestation. Short, bowed lower extremities but normal color of sclerae were noted after birth. Radiographs revealed L't femoral fracture and callus formation of R't 8th rib. She survives till now with gradual deformity of long bone and growth retardation. Because of the poor prognosis of Sillence type Ⅱ and type Ⅲ, there is no doubt that accurate genetic counseling and prenatal diagnosis will become important in the management of the disease.

並列關鍵字

osteogenesis imperfecta ； blue sclera ； peroxidase and antiperoxidase stain

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成骨不全症：二病例報告

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