Bibi Anisa, Uddin Sader, Naeem Muhammad, Syed Amman, Ud-Din Qazi Waheed, Rathore Farooq Azam, Malik Sajid
Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Armed Forces Institute of Rehabilitation Medicine (AFIRM), Rawalpindi, Pakistan.
Prosthet Orthot Int. 2023 Oct 1;47(5):479-485. doi: 10.1097/PXR.0000000000000204. Epub 2023 Jan 31.
Congenital limb deficiency (CLD) is a group of very rare disorders characterized by substantial hypoplasia or the complete absence of 1 or more bones of limbs. Congenital limb deficiency has a significant physical, clinical, and psychological burden on the affected individuals and their families. This cross-sectional study aimed to describe the prevalence pattern, phenotypic manifestations, and biodemographic factors associated with CLD in a cohort assembled from the Pakistani population from the Northwestern region.
Through a prospective cross-sectional study, 141 individuals having 166 limbs with CLD were recruited during 2017-2021.
There were 77 (55%) individuals with transverse defects, 61 (43%) with longitudinal defects, and 3 (2%) with Intercalary defects. Among the patients with transverse defects, 52 had terminal amputations and 25 had symbrachydactyly. Among the longitudinal defects, thumb aplasia/hypoplasia was the most common presentation (20 patients), followed by oligodactyly (18), and radial hemimelia (18). Eighty six percent had upper-limb deficiencies, 83% had unilateral deficiencies, and 92% were sporadic in nature. The parental consanguinity was observed in 33% individuals, and 79% cases had an isolated presentation which may be indicative of the substantial role of nongenetic factors in the etiology of CLD.
This study demonstrates marked heterogeneity in CLD subtypes in the involvement of limbs and associated variables. There is a need to establish a national registry for CLD, molecular genetic diagnosis, and multidisciplinary medical and social rehabilitation services for these individuals.
先天性肢体缺损（CLD）是一组非常罕见的疾病，其特征是肢体的一块或多块骨头严重发育不全或完全缺失。先天性肢体缺损给受影响的个体及其家庭带来了巨大的身体、临床和心理负担。这项横断面研究旨在描述在一个由巴基斯坦西北地区人群组成的队列中，与先天性肢体缺损相关的患病率模式、表型表现和生物人口统计学因素。
通过一项前瞻性横断面研究，在2017年至2021年期间招募了141名患有166条先天性肢体缺损肢体的个体。
有77名（55%）个体存在横向缺损，61名（43%）存在纵向缺损，3名（2%）存在节段性缺损。在横向缺损的患者中，52例为末端截肢，25例为并指畸形。在纵向缺损中，拇指缺如/发育不全是最常见的表现（20例患者），其次是多指畸形（18例）和桡骨半侧发育不全（18例）。86%的患者有上肢缺损，83%为单侧缺损，92%为散发性。33%的个体观察到父母近亲结婚，79%的病例为孤立性表现，这可能表明非遗传因素在先天性肢体缺损病因中起重要作用。
本研究表明先天性肢体缺损亚型在肢体受累及相关变量方面存在明显异质性。有必要为先天性肢体缺损建立国家登记册、进行分子遗传学诊断，并为这些个体提供多学科医疗和社会康复服务。
