DuPre C T, Fincher R M
Medical College of Georgia, Department of Medicine, Augusta 30912.
South Med J. 1993 Apr;86(4):453-6. doi: 10.1097/00007611-199304000-00017.
Holt-Oram syndrome is a rare, autosomal dominant syndrome characterized by upper extremity skeletal abnormalities and cardiac defects. The most common skeletal anomalies involve the thumbs and range from minor radiographic abnormalities to phocomelia. The most common cardiovascular abnormality is ostium secundum ASD, followed by ventriculo-septal defect and ostium primum ASD. MVP and hypoplastic peripheral vasculature of the upper extremities have been reported only rarely. We have reported the case of a patient with HOS who has both hypoplastic peripheral upper extremity vasculature and evidence of MVP.
Holt-Oram综合征是一种罕见的常染色体显性综合征，其特征为上肢骨骼异常和心脏缺陷。最常见的骨骼异常累及拇指，范围从轻微的影像学异常到短肢畸形。最常见的心血管异常是继发孔型房间隔缺损，其次是室间隔缺损和原发孔型房间隔缺损。二尖瓣脱垂和上肢周围血管发育不全仅很少有报道。我们报告了1例患有Holt-Oram综合征的患者，该患者既有上肢周围血管发育不全，又有二尖瓣脱垂的证据。
