Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan

Abstract

Background 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. Objectives To investigate the prevalence of CLD and their associated factors in a married female population of the Rahim Yar Khan (RYK) District in Pakistan. Methods 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. Results 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). Conclusion 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.

A case report on Fibular Aplasia, Tibial Campomelia, Oligosyndactyly Syndrome variant in a Male Infant

“…Different congenital limb deficiencies have been observed in some studies in Pakistan but according to the best of our knowledge, this is the first case of "FATCO syndrome" which is reported from Pakistan. 8,9 Case Report A male neonate born via elective Caesarean section at 38 weeks was identified with fibular hypoplasia, tibial campomelia, and oligodactyly on the first day of birth at the Aga Khan Secondary hospital in February 2020. All reported antenatal scans were unremarkable.…”