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

Hafiza Fizzah Riaz
Hafiza Fizzah Riaz
 y 
Sajid Malik
Sajid Malik
   | 30 jun 2021
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Article Category: Brief communication (original)
Publicado en línea: 30 jun 2021
Páginas: 137 - 144
DOI: https://doi.org/10.2478/abm-2021-0017
Palabras clave
© 2021 Hafiza Fizzah Riaz et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Variable Affected Unaffected Prevalence/1,000 OR 95% CI
Tehsil
Rahim Yar Khan 2 599 3.32 Reference
Khanpur 4 583 6.81 2.05 0.37–11.27
Sadiqabad 5 959 5.20 1.56 0.30–8.08
Liaquatpur 0 52 0.0
Total 11 2193 4.99
Native dialect
Punjabi 7 1105 6.29 2.01 0.52–7.81
Saraiki 3 953 3.14 Reference
Other 1 135 7.35 2.35 0.24–22.80
Place of residence
Rural 7 1409 4.94 Reference
Urban 4 784 5.08 1.03 0.30–3.52
Family structure
Nuclear family 9 1210 7.38 3.35 0.79–16.97
Extended Family 2 983 2.03 Reference
Parental marriage
Consanguineous 8 1290 6.16 1.87 0.49–7.06
Nonconsanguineous 3 903 3.31 Reference
Education
Illiterate 7 1464 4.76 Reference
Literate 4 729 5.46 1.15 0.33–3.93
Age group (years)
29 5 1075 4.63 Reference
>29 12 1118 10.62 2.31 0.81–6.57

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

Limb anomaly No. Prevalence/1,000 95% CI OMIM ICD-10
Polydactyly (all) 5 2.27 0.72–5.31 603,596 Q69
Polydactyly (postaxial A) 4 1.81 0.48–4.67 174,200 Q69.0
Polydactyly (preaxial) 1 0.45 <0.001–2.57 174,400 Q69.1
Brachydactyly (all) 4 1.81 0.48–4.67
Brachydactyly (brachymetatarsia IV) 3 1.36 0.26–4.00 113,475
Brachydactyly type A4 1 0.45 <0.001–2.57 112,800
Camptodactyly 1 0.45 <0.001–2.57 114,200 M72.0
Oligodactyly (thumb aplasia) 1 0.45 <0.001–2.57 Q71.3
Total 11 4.99 2.48–8.94

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

Features Polydactyly (all) Brachydactyly (all) Camptodactyly Oligodactyly Total
No. of cases 5 4 1 1 11
Total affected in all families 12 5 1 1 19
Familial/sporadic nature
Familial 4 1 0 0 5
Sporadic 1 3 1 1 6
Laterality
Unilateral 3 1 1 0 5
Bilateral 2 3 0 1 6
Symmetry
Symmetrical 2 3 0 1 6
Asymmetrical 3 1 1 0 5
Involvement of limb
Upper right 3 1 1 1 6
Upper left 1 1 0 1 3
Lower right 2 2 0 0 4
Lower left 1 3 0 0 4
Total limbs involved 7 7 1 2 17
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