Oğur G, Gül D, Lenk M K, Imirzalioğlu N, Alpay F, Oğur E
Department of Medical Genetics, Gülhane Military Medical Academy, Ankara.
Turk J Pediatr. 1998 Oct-Dec;40(4):613-8.
Holt-Oram syndrome is a distinct autosomal dominant entity presenting with upper limb defects and cardiac abnormality. No correlation between the severity of the heart and the limb defects has been established. Here we report variable clinical expression of Holt-Oram syndrome in three generations. The grandfather presented with typical upper limb defects: phocomelia of arms with three digits on each hand, congenital heart defect and narrow shoulders. His son manifested cardiac conduction disturbance with no congenital heart or skeletal defect. The granddaughter showed ventricular septal defect and moderate radial deviations of both hands with no obvious hypoplasia of the extremities. Clinical data of the presented family suggests lack of penetrance with respect to skeletal and structural cardiac abnormalities in the Holt-Oram syndrome.
Holt-Oram综合征是一种独特的常染色体显性遗传病，表现为上肢缺陷和心脏异常。心脏和肢体缺陷的严重程度之间尚未建立相关性。在此，我们报告了三代人中Holt-Oram综合征的可变临床表型。祖父表现出典型的上肢缺陷：双臂短肢畸形，双手各有三个手指，先天性心脏缺陷和肩部狭窄。他的儿子表现为心脏传导障碍，无先天性心脏或骨骼缺陷。孙女表现为室间隔缺损和双手中度桡侧偏斜，四肢无明显发育不全。所呈现家族的临床数据表明，Holt-Oram综合征在骨骼和结构性心脏异常方面存在外显不全。
