Riaz Hafiza Fizzah, Malik Sajid
Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Asian Biomed (Res Rev News). 2021 Jun 30;15(3):137-144. doi: 10.2478/abm-2021-0017. eCollection 2021 Jun.
Congenital limb defects (CLD) have a range of phenotypes and can be a substantial cause of disability. The prevalence of CLD in the adult population of Pakistan is not well described.
To investigate the prevalence of CLD and their associated factors in a married female population of the Rahim Yar Khan (RYK) District in Pakistan.
A cross-sectional population-based study was conducted in 4 tehsils of RYK District, and married women and girls from 22 different localities were enrolled by convenience sampling in public places and through door-to-door visits. Data regarding limb phenotype and demographic variables were obtained from participants.
We enrolled 2,204 married women and girls. We found 11 participants with CLD suggesting a prevalence of 4.99/1,000 (proportion: 0.005; 95% confidence interval [CI] <0.001-0.01). Polydactyly was the most frequent (n = 5; prevalence: 2.27/1,000), followed by others in the following sequence: brachydactyly (n = 4; prevalence: 1.81/1,000), camptodactyly (n = 1; prevalence: 0.45/1,000), and oligodactyly (n = 1; prevalence: 0.45/1,000). The odds of occurrence of CLD were higher in individuals originating from Khanpur tehsil (odds ratio [OR] 2.05; 95% CI 0.37-11.27), speaking languages other than Punjabi and Saraiki (OR 2.35; 95% CI 0.24-22.80), belonging to Araien caste (OR 2.35; 95% CI: 0.24-22.80), of a nuclear family (OR 3.35; 95% CI 0.79-16.97), or having parental consanguinity (OR 1.87; 95% CI 0.49-7.06).
Preliminary estimate of CLD prevalence in the married female sample population in RYK appears high compared with estimates from birth defects registries in other countries.
先天性肢体缺陷（CLD）具有一系列表型，可能是导致残疾的重要原因。巴基斯坦成年人口中CLD的患病率尚无详尽描述。
调查巴基斯坦拉希姆亚尔汗（RYK）地区已婚女性人群中CLD的患病率及其相关因素。
在RYK地区的4个乡开展了一项基于人群的横断面研究，通过在公共场所方便抽样以及挨家挨户走访，纳入了来自22个不同地点的已婚妇女和女孩。从参与者那里获取了有关肢体表型和人口统计学变量的数据。
我们纳入了2204名已婚妇女和女孩。我们发现11名参与者患有CLD，患病率为4.99/1000（比例：0.005；95%置信区间[CI]<0.001 - 0.01）。多指畸形最为常见（n = 5；患病率：2.27/1000），其次依次为其他类型：短指畸形（n = 4；患病率：1.81/1000）、屈曲指畸形（n = 1；患病率：0.45/1000）和少指畸形（n = 1；患病率：0.45/1000）。来自汗布尔乡的个体发生CLD的几率更高（优势比[OR]2.05；95%CI 0.37 - 11.27），说旁遮普语和萨拉基语以外语言的个体（OR 2.35；95%CI 0.24 - 22.80），属于阿拉因种姓的个体（OR 2.35；95%CI：0.24 - 22.80），核心家庭的个体（OR 3.35；95%CI 0.79 - 16.97），或有父母近亲关系的个体（OR 1.87；95%CI 0.49 - 7.06）。
与其他国家出生缺陷登记处的估计相比，RYK地区已婚女性样本人群中CLD患病率的初步估计值似乎较高。
