Knight Jeffrey B, Pritsch Tamir, Ezaki Marybeth, Oishi Scott N
Hope Orthopedics of Oregon, Salem, OR, USA.
J Hand Surg Am. 2012 Jan;37(1):124-9. doi: 10.1016/j.jhsa.2011.09.018. Epub 2011 Nov 3.
To describe a type of nonhereditary unilateral transverse deficiency, which we have named hypodactyly, that is distinct from symbrachydactyly or amniotic disruption sequence.
We identified 19 patients with unilateral congenital anomalies consisting of absent or short bulbous fingers that lack terminal ectodermal elements. Medical records and radiographs were retrospectively reviewed and contrasted with the typical findings of symbrachydactyly and amniotic disruption sequence.
No associated syndromes or potentially causative diagnoses were identified in the hypodactyly patients. The digital absences were of a truncated pattern with thickened, tubular soft tissue coverage. Radiographs revealed a pattern of severity progression that is different from that of symbrachydactyly. Distal phalanges were the bony elements absent most frequently, followed sequentially by the middle phalanx and proximal phalanx. In all cases, metacarpals were present. Unlike symbrachydactyly, the ulnar 2 digits were more involved than the index and long fingers, and the thumb was the least involved digit.
Hypodactyly appears to be a congenital hand anomaly that is clinically and radiographically different from symbrachydactyly or amniotic disruption sequence and is presumed to be caused by a distinct pathomechanism.
TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.
描述一种非遗传性单侧横向缺损类型，我们将其命名为少指畸形，它与并指畸形或羊膜破裂序列不同。
我们确定了19例患有单侧先天性异常的患者，这些患者存在指球缺如或短小且缺乏末端外胚层成分的情况。对病历和X线片进行回顾性分析，并与并指畸形和羊膜破裂序列的典型表现进行对比。
在少指畸形患者中未发现相关综合征或潜在病因诊断。手指缺如呈截断型，伴有增厚的管状软组织覆盖。X线片显示出与并指畸形不同的严重程度进展模式。远端指骨是最常缺如的骨成分，其次依次是中指骨和近指骨。所有病例中掌骨均存在。与并指畸形不同，尺侧2指比示指和中指受累更重，拇指是受累最轻的手指。
少指畸形似乎是一种先天性手部异常，在临床和影像学上与并指畸形或羊膜破裂序列不同，推测是由独特的发病机制引起的。
研究类型/证据水平：预后性IV级。
