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Open access

Karmoon Lal and Sajid Malik

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.

Open access

Muhammad Afzal and Sajid Malik

Abstract

Background: Longitudinal deficiency of upper limbs with oligodactyly is a very rare congenital malformation. It manifests itself as preaxial or postaxial hypoplasia/aplasia of long bones accompanied by reduction of palm and phalanges.

Objective: To report two cases with essentially similar phenotypic presentation characterized by unilateral mesomelic shortening of limb, ulnar hypoplasia, and severe deficiency of skeletal elements of hand that were found in unrelated individuals.

Methods: Review of clinical and family history, phenotypic examination, physical and radiological investigations, and literature review.

Results: In both individuals, the right arm was short, the size of the middle arm and hand being dramatically reduced in size, and the hand comprising only two functional digits. Roentgenograms revealed hemimelia/ dysmelia of the ulna, hypoplasia of radius, dysplastic distal radial head, and several missing carpals. Only two phalangeal rays were witnessed in the hand. Radiographic measurements showed a normal contralateral arm and lower limbs, and no other associated symptoms. These phenotypes were classified as type I and type D according to the schemes proposed by Swanson et al., and Ogino and Kato, respectively. Both individuals were the product of third degree consanguineous unions (F = 0.0625).

Conclusion: Consistent phenotypic pattern of longitudinal limb anomalies evident in two independent subjects suggest a common underlying genetic etiology. There is currently no known genetic factor to allow molecular testing and risk estimation for family members. Isolated limb anomalies may provide important clues to understand pathomorphogenetic mechanisms that lead to the disruption of normal limb development.

Open access

Qandeel Zahra, Muhammad Shuaib and Sajid Malik

Abstract

Background

We know of no study reporting hereditary and congenital anomalies (CA) prevalent among northwestern populations in the Federally Administered Tribal Areas (FATA) of Pakistan, a region of war and geopolitical unrest.

Objectives

To determine and report the epidemiology of CA in the Kurram Tribal Agency in northwest Pakistan.

Methods

A cross-sectional clinical and genetic epidemiological study was conducted in relatively safe pockets of the Kurram Agency of FATA and individuals or families with CA were randomly recruited through door-to-door surveys and visiting public places like the Jirgah and hospitals.

Results

This study ascertained 246 independent families or individuals with CA. They were grouped into 9 major and 49 minor phenotypic categories. Among the major categories, neurological disorders were the most frequent (n = 83; proportion = 0.337; CI = 0.278,0.397), followed by musculoskeletal defects (n = 56), limb anomalies (n = 52), sensorineural/ear defects (n = 18), ectodermal anomalies (n = 11), congenital heart defects (n = 10), and eye/visual impairments (n = 6). Sporadic occurrence of anomalies was more frequent than familial occurrence (169 vs. 77), and isolated presentations were more common than syndromic appearance (170 vs. 76). The distribution of various ascertainment types (e.g. sex-wise, familial/sporadic, isolated/syndromic presentations), with demographic variables such as age, origin, ethnicity, education, family type, and parental consanguinity were mostly not significant.

Conclusions

Neurological disorders were the most frequent type of congenital anomalies in the Kurram Federal Tribal Agency of Pakistan.

Open access

Muhammad Tufail, Atta Ur Rehman and Sajid Malik

Abstract

Background

Despite the high sociocultural preferences in contracting marriages among close relatives in Pakistan, marked regional differences exist in the prevalence of consanguinity. There is great interest to elucidate the sociodemographic variables underlying the heterogeneity in consanguinity prevalence in the various populations. The present study was conducted in the Mardan district of Pakistan, the second largest multiethnic Pashtun metropolis.

Objective

To find determinants of consanguineous unions.

Methods

In a cross-sectional study design, a convenience sample of 1,202 ever-married men from 3 tehsils of Mardan district was recruited in an unselected manner and data regarding their marital union types and sociodemographic variables were obtained by a structured interview. Descriptive statistics and multivariable logistic regression analyses were used.

Results

Consanguineous unions accounted for 44% of all marriages, and the inbreeding coefficient was calculated as 0.0258. Regression analyses revealed that 6 variables were significant predictors of consanguinity, namely, tehsil, age, year of marriage, caste (zaat/biradari) system, area of house, and marriage arrangement of the respondent, while 6 other variables, namely, rural/urban origin, literacy, occupation, monthly income, household type, and number of family members, were not found to be significant. Regression analyses showed that there were different combinations of variables predictive of consanguinity among the various tehsils.

Conclusions

The prevalence of consanguinity in the Mardan district was found to be lower than that in many other districts of Pakistan. National regional differences exist in consanguinity, and the combination of predictive factors varies greatly.