Department of Orthopedics, Hitech Hospital, Udupi, 576103, India.
Department of Hand Surgery, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, 576104, India.
Int Orthop. 2024 Dec;48(12):3175-3183. doi: 10.1007/s00264-024-06327-w. Epub 2024 Sep 26.
Ulnar Longitudinal Deficiency (ULD) is a sporadic congenital difference affecting the upper-limb. There is a lack of information on this condition in the Indian subcontinent population, hence the importance of documenting ULD in this region and highlighting the novelty. This retrospective case-series aimed to describe the manifestations of ULD and document its unique presentation pattern in the South Asian population.
We made a comprehensive assessment of medical records for all the patients from 2008 to 2023. We assessed and documented the demographic details, clinical features, and radiographic images of the upper-limb and associated investigations for other clinical presentations. Patients were grouped based on standard elbow, forearm, and hand classifications.
We documented a total of 68 hands in 55 patients. We observed consanguinity among parents in eight (15%) patients with family-history of other deformities in five patients (9%). Most of our patients presented during the second to fifth year of age (35%). Fourteen (25%) of them presented after ten years. The most common pattern of the presentation was Aplasia of the Ulna, either partial or complete (17 each - 50% of limbs), fixed elbow deformity (28 limbs - 41.1%), absent first web-space affecting 27 (39.7%) limbs, and absent ulnar two fingers with 20 (29.4%) limbs. We observed radial-side deficiency of the hand in 46 (67.6%) patients. 62.3% (43/69) of the surgeries were done for hand deformity.
Key features observed were the presence of consanguinity among parents, late presentation after the first decade, majority having radial-side hand defects and half presenting with elbow stiffness and ulnar aplasia.
尺骨纵向发育不全（ULD）是一种影响上肢的散发性先天性差异。由于印度次大陆人群对此病症的信息了解甚少，因此，记录该区域 ULD 的情况并强调其新颖性非常重要。本回顾性病例系列旨在描述 ULD 的表现，并记录南亚人群中该疾病的独特表现模式。
我们对 2008 年至 2023 年期间所有患者的病历进行了全面评估。我们评估并记录了上肢的人口统计学细节、临床特征和影像学图像以及其他临床表现的相关检查。患者根据标准肘部、前臂和手部分类进行分组。
我们共记录了 55 名患者的 68 只手。在 8 名（15%）有亲属关系的患者中观察到了近亲结婚，在 5 名（9%）患者中有家族其他畸形的病史。我们的大多数患者在 2 至 5 岁之间就诊（35%）。其中 14 名（25%）在 10 岁以后就诊。最常见的就诊模式是尺骨部分或完全缺如（17 例-50%的手），固定性肘部畸形（28 例-41.1%），27 例（39.7%）第一腕间无间隙，20 例（29.4%）无尺侧两指。我们观察到 46 名（67.6%）患者手部桡侧发育不全。62.3%（43/69）的手术是为了手部畸形。
观察到的主要特征是父母近亲结婚、10 岁以后就诊、多数患者手部桡侧存在缺陷、半数患者肘部僵硬和尺骨缺如。
