指甲－－臏骨症候群：一家族病例報告

Nail-Patella Syndrome: A Family Report

指甲－－臏骨症候群，也稱為遺傳性甲床－－骨骼結構不良，其特徵是指甲發育不良，膝部、骨盆及肘部等主要骨骼的變形，腎臟發育不良及廣泛軟組織的異常。此病是以自體染色體顯性遺傳，且具有高度遺傳特質表現頻度之特徵。此症候群在英國並不罕見，但臺灣卻未有報告過。最近，我們發現一家族三代中，有九名具有此不尋常的症候群，其臨床表徵，包括骼骨角、除拇指外，其他末端指間關節背側摺痕消失、嚴重肘部關節屈狀攣縮、不對稱的股骨髁、臏骨發育不良、拇指指甲尺骨半側邊結構不良、橈骨向後半脫臼、肘窩處蹼狀的形成、及三角肌、三頭肌及臂橈肌等上臂肌肌肉的萎縮。一般言之，此病無特別治療，預後尚佳。

The nail-patella syndrome, also called hereditary onychoosteodysplasia, is characterized by dystrophy of the nails, bony deformities mainly involved the knees, pelvis and elbow, renal dysplasia and widespread soft-tissue abnormalities. The syndrome is transmitted as an autosomal dominant trait with a characteristic very high incidence of penetrance. It is not rare in the United Kingdom but has not been reported in Taiwan. Recently, we found a family with total 9 members in three generations affected with this unusual syndrome. The clinical manifestations included iliac horn, absence of D. I. P. dorsal creases of all fingers but not the thumbs, severe flexion contracture of elbow, hemidysplasia of the the ulnar half of thumb nails, web formation across the cubital fossa, posterior dislocation of radial head, and muscular hypoplasia of the upper limb affecting deltoid, triceps and brachioradialis. There was no specific treatment and the prognosis was reported well.