Abstract
Background
Congenital limb defects (CLDs) are a significant cause of morbidity and depending upon the severity, result in varying degrees of disability. Data on CLDs is scarce for South Asian populations.
Objective
To obtain insight into the spectrum of CLDs in the population of the interior Sindh region Pakistan.
Methods
A cross-sectional study was conducted in seven districts of interior Sindh and individuals or families were recruited from various hospitals and through door-to-door surveys.
Results
We recruited 165 independent individuals or families with certain type of CLDs during 2010-2013. The CLDs were categorized into 10 broad categories, and the five major types witnessed were: polydactyly, syndactyly, reduction deformities, musculoskeletal defects, and brachydactyly. CLDs depicted great phenotypic variability, but collectively, upper limbs were more commonly involved than lower limbs, right arms more than the left, left legs more than the right, and distal limb segments more than proximal segments. The pattern of malformations was not different between Muslims and Hindus.
Conclusions
These data established detailed distributions of CLDs across the vital sociodemographic attributes of the studied population, and are helpful in quantifying the impact of CLDs on the study population. Future molecular analyses of this cohort are anticipated to improve the clinical classifications and would also be of tremendous help to the affected individuals or families in risk estimation and genetic counseling.