Have a personal or library account? Click to login
Congenital limb defects in a married female population of the Rahim Yar Khan District in Pakistan Cover

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

Open Access
|Jun 2021

Figures & Tables

Figure 1

Map of Pakistan (A) with zoom-in view of Punjab province (B) highlighting RYK District in the far South (C) with 4 tehsils (S: Sadiq Abad; R: Rahim Yar Khan; K: Khanpur; L: Liaquatpur). Sampling sites (n = 22) are shown as black dots. Adapted from public domain source found at: http://www.freeworldmaps.net/asia/pakistan. RYK, Rahim Yar Khan; KPK, Khyber Pakhtunkhwa.
Map of Pakistan (A) with zoom-in view of Punjab province (B) highlighting RYK District in the far South (C) with 4 tehsils (S: Sadiq Abad; R: Rahim Yar Khan; K: Khanpur; L: Liaquatpur). Sampling sites (n = 22) are shown as black dots. Adapted from public domain source found at: http://www.freeworldmaps.net/asia/pakistan. RYK, Rahim Yar Khan; KPK, Khyber Pakhtunkhwa.

Figure 2

Phenotypic presentation of hereditary limb anomalies among the participants. (A) Bilateral brachymetatarsia of 4th toes. (B) Brachydactyly type A4 depicting bilaterally small 2nd and 5th fingers. (C) Camptodactyly of right 5th finger. (D) Postaxial polydactyly type A of right foot. (E) Bilateral postaxial polydactyly of 5th toes (polysyndactyly of 5th to 6th toes). (F) Preaxial polydactyly (hyperdactyly) of right hand marked by the presence of a supernumerary digit. With documented informed consent for publication from each participant or with their assent and consent from their husband or husband's first degree relative.
Phenotypic presentation of hereditary limb anomalies among the participants. (A) Bilateral brachymetatarsia of 4th toes. (B) Brachydactyly type A4 depicting bilaterally small 2nd and 5th fingers. (C) Camptodactyly of right 5th finger. (D) Postaxial polydactyly type A of right foot. (E) Bilateral postaxial polydactyly of 5th toes (polysyndactyly of 5th to 6th toes). (F) Preaxial polydactyly (hyperdactyly) of right hand marked by the presence of a supernumerary digit. With documented informed consent for publication from each participant or with their assent and consent from their husband or husband's first degree relative.

Figure 3

Representative pedigrees of familial cases. (A) Five generation pedigree showing the transmission of polydactyly in 2 independent sibships. In both sibships there were consanguineous marriages. (B) Two generation pedigree showing 2 affected sibs with brachydactyly. (C) Four generation kindred exhibiting the transmission of polydactyly in 2 generations. With informed consent for publication from each participant or with their assent and consent from their husband or a first degree relative.
Representative pedigrees of familial cases. (A) Five generation pedigree showing the transmission of polydactyly in 2 independent sibships. In both sibships there were consanguineous marriages. (B) Two generation pedigree showing 2 affected sibs with brachydactyly. (C) Four generation kindred exhibiting the transmission of polydactyly in 2 generations. With informed consent for publication from each participant or with their assent and consent from their husband or a first degree relative.

Association of limb anomalies in sociodemographic attributes of participants

VariableAffectedUnaffectedPrevalence/1,000OR95% CI
Tehsil
Rahim Yar Khan25993.32Reference
Khanpur45836.812.050.37–11.27
Sadiqabad59595.201.560.30–8.08
Liaquatpur0520.0
Total1121934.99

Native dialect
Punjabi711056.292.010.52–7.81
Saraiki39533.14Reference
Other11357.352.350.24–22.80

Place of residence
Rural714094.94Reference
Urban47845.081.030.30–3.52

Family structure
Nuclear family912107.383.350.79–16.97
Extended Family29832.03Reference

Parental marriage
Consanguineous812906.161.870.49–7.06
Nonconsanguineous39033.31Reference

Education
Illiterate714644.76Reference
Literate47295.461.150.33–3.93

Age group (years)
29510754.63Reference
>2912111810.622.310.81–6.57

Prevalence of limb anomalies in a married female population sample from Rahim Yar Khan District

Limb anomalyNo.Prevalence/1,00095% CIOMIMICD-10
Polydactyly (all)52.270.72–5.31603,596Q69
Polydactyly (postaxial A)41.810.48–4.67174,200Q69.0
Polydactyly (preaxial)10.45<0.001–2.57174,400Q69.1

Brachydactyly (all)41.810.48–4.67
Brachydactyly (brachymetatarsia IV)31.360.26–4.00113,475
Brachydactyly type A410.45<0.001–2.57112,800

Camptodactyly10.45<0.001–2.57114,200M72.0
Oligodactyly (thumb aplasia)10.45<0.001–2.57 Q71.3

Total114.992.488.94

Characteristics of limb anomalies in a married female population sample from Rahim Yar Khan District

FeaturesPolydactyly (all)Brachydactyly (all)CamptodactylyOligodactylyTotal
No. of cases541111

Total affected in all families1251119

Familial/sporadic nature
Familial41005
Sporadic13116

Laterality
Unilateral31105
Bilateral23016

Symmetry
Symmetrical23016
Asymmetrical31105

Involvement of limb
Upper right31116
Upper left11013
Lower right22004
Lower left13004

Total limbs involved771217
DOI: https://doi.org/10.2478/abm-2021-0017 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
Language: English
Page range: 137 - 144
Published on: Jun 30, 2021
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year

© 2021 Hafiza Fizzah Riaz, Sajid Malik, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.