Epidemiological study of congenital limb defects in individuals or families from the interior Sindh region of Pakistan

Karmoon Lal; Sajid Malik

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Epidemiological study of congenital limb defects in individuals or families from the interior Sindh region of Pakistan

Karmoon Lal

und

Sajid Malik

| 31. Jan. 2017

Asian Biomedicine

Band 9 (2015): Heft 3 (June 2015)

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Article Category: Brief communication (Original)

Online veröffentlicht: 31. Jan. 2017

Seitenbereich: 325 - 334

DOI: https://doi.org/10.5372/1905-7415.0903.401

Schlüsselwörter
Congenital limb defects, genetic epidemiology, limb anomalies, polydactyly, syndactyly

© 2015 Karmoon Lal, Sajid Malik

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Map of Pakistan (A) with zoom-in image of Sindh province (B). Seven districts of interior Sindh from where subjects were recruited: 1. Khairpur, 2. Sanghar, 3. Umerkot, 4. Mirpur Khas, 5. Tando Allahyar, 6. Hyderabad, 7. Tando Adam.

Schematic showing the frequency of involvement of CLDs in each limb and the combinations of two limbs involved in a malformation. (RA = right arm; LA = left arm; RL = right leg; LL = left leg)

Involvement of different segments of limbs (stylopod, zeugopod, autopod, and digits). Composite numbers are presented for the total, upper, and lower limbs

Clinical subtypes, laterality, and symmetry in CLDs

Limb defect	Total	Subtypes	Unilateral	Bilateral	Symm^a
Polydactyly	80	4	48	32	16
Syndactyly	34	6	5	29	13
Absence deformities	13	5	8	5
Musculoskeletal defects	11	4	3	8	5
Brachy dactyly	11	4	4	7	5
Leg defects	5	3	4	1
Camptodactyly	4	1		4	3
Clubfoot	4	1	1	3	1
Clinodactyly	2	1		2
Club finger	1	1		1	1
Total	165	30	73	92	44

Demographic distribution of 165 index subjects with CLDs (with respect to gender and subpopulation)

Demographic variable	Sex		Subpopulation		Total

	Male	Female	Muslim	Hindu
District (n = 165)
Tando Allahyar	66	15	38	43	81
Umerkot	21	13	8	26	34
Sanghar	16	2	12	6	18
Mirpur Khas	9	1	6	4	10
Khairpur	8	1	7	2	9
Hyderabad	6	1	7	0	7
Tando Adam	6	0	5	1	6
Total	132	33	83	82	165
	P = 0.11		P = 0.004 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.
Origin (n = 165)
Rural	99	21	56	64	120
Urban	33	12	27	18	45
	P = 0.19		P = 0.13
Age range (y; n = 165)
<9	21	9	14	16	30
10–19	42	10	19	33	52
20–29	33	7	28	12	40
≥3 0	36	7	22	21	43
	P = 0.49		P = 0.02 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.
Occupation (age≥ 6 y; n = 144) Only data of these cases was available
Labor/manual jobs	50	11	30	31	61
Student	28	5	23	10	33
Farmer/agriculture	24	5	9	20	29
Skilled worker	14	0	8	6	14
Housewife (women)	2P = 0.006 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.	5	1P = 0.01 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.	6	7
Literacy (age≥ 6 y; n = 144) Only data of these cases was available
Illiterate	50	21	25	46	71
Literate	68	5	42	31	73
	P = 0.0004 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.		P = 0.007 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.
Socioeconomic status (n = 155) Only data of these cases was available
Poor	85	21	39	67	106
Lower middle	23	8	22	9	31
Upper middle	12	2	11	3	14
Upper	4P = 0.64	0	3P = 0.0004 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.	1	4
Marital status (age ≥18; n = 85) Only data of these cases was available
Single	29	4	30	3	33
Married	42	10	20	32	52
	P = 0.55		P < 0.0001 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.
Family type/structure (n = 150) Only data of these cases was available
Single	3	0	1	2	3
Nuclear	74	15	28	61	89
Extended	42	16	42	16	58
	P = 0.15		P < 0.0001 statistically significant (P < 0.05). Categories with nonzero values were employed in the analyses.
Mother tongue (Muslim, n = 83)
Sindhi	40	6			46
Urdu	8	2			10
Saraiki	7	1			8
Balochi	5	3			8
Punjabi	7	1			8
Others	2	1			3
	P = 0.58
Mother tongue (Hindu, n = 82)
Marwari			33	11	44
Dhatki			17	3	20
Gujarati			9	3	12
Sindhi			5P = 0.81	1	6
Caste systems (Muslim, n = 83)
Baloch	5	3			8
Khanzada	6	1			7
Solangi	3	4			7
Abbasi	4	0			4
Arain	4	0			4
Khaskheli	0	4			4
Khumbhar	0	4			4
Others	20	14			34
Caste systems (Hindu, n = 82)
Bheel			31	9	40
Menghwar			10	5	15
Kohli			8	0	8
Rathore			7	0	7
Others			8	4	12
Total	132	33	64	18	165

Major categories of CLDs: distributions with respect to sex, subpopulation, and proportions

Limb defect	Index participants (n = 165)		Subpopulation		Total	Proportion	95% CI

	Male	Female	Muslim	Hindu
Polydactyly	62	18	40	40	80	0.4848	0.4086-0.5611
Syndactyly	29	5	17	17	34	0.2061	0.1443-0.2678
Absence deformities	10	3	4	9	13	0.0788	0.0377-0.1199
Musculoskeletal defects	9	2	5	6	11	0.0667	0.0286-0.1047
Brachydactyly	7	4	7	4	11	0.0667	0.0286-0.1047
Leg defects	5		3	2	5	0.0303	0.0041-0.0565
Camptodactyly	4		3	1	4	0.0242	0.0008-0.0477
Clubfoot	4		2	2	4	0.0242	0.0008-0.0477
Clinodactyly	1	1	1	1	2	0.0121	–0.0046-0.0288
Club finger	1		1	0	1	0.0061	–0.0058-0.0179
Total	132	33	83	82	165	1.000	1

Pattern of affected limbs and the combination of involved limbs in the study subjects

Limb defects	No. of cases (n = 165)	Total affected limbs (n = 315)	Upper limb (n = 172)		Lower limb (n = 143)		No. of cases with involvement			No. of limbs involved (n = 165)

			RA	LA	RL	LL	Hands only	Feet only	Both	Any 1	Any 2	Any 3	All 4
Polydactyly	80	139	47	41	23	28	47	17	16	44	23	3	10
Syndactyly	34	77	16	18	22	21	12	14	8	5	21	2	6
Absence deformities	13	25	9	9	3	4	8	1	4	6	4	1	2
Musculoskeletal defects	11	25	8	6	6	5	5	3	3	3	5		3
Brachy dactyly	11	20	2	2	9	7	1	9	1	4	6		1
Leg defects	5	6			1	5		5		4	1
Camptodactyly	4	8	4	4			4				4
Clubfoot	4	7			4	3		4		1	3
Clinodactyly	2	4	2	2			2				2
Club finger	1	4	1	1	1	1			1				1
Subpopulation
Muslim	83	174	45	45	41	43	34	25	24	31	31	3	18
Hindu	82	141	44	38	28	31	45	28	9	36	38	3	5
Total	165	315	89	83	69	74	79	53	33	67	69	6	23

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Epidemiological study of congenital limb defects in individuals or families from the interior Sindh region of Pakistan

Article Category: Brief communication (Original)

Online veröffentlicht: 31. Jan. 2017

Seitenbereich: 325 - 334

DOI: https://doi.org/10.5372/1905-7415.0903.401

Schlüsselwörter
Congenital limb defects, genetic epidemiology, limb anomalies, polydactyly, syndactyly

© 2015 Karmoon Lal, Sajid Malik

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Figure 3

Clinical subtypes, laterality, and symmetry in CLDs

Demographic distribution of 165 index subjects with CLDs (with respect to gender and subpopulation)

Major categories of CLDs: distributions with respect to sex, subpopulation, and proportions

Pattern of affected limbs and the combination of involved limbs in the study subjects

Epidemiological study of congenital limb defects in individuals or families from the interior Sindh region of Pakistan

Article Category: Brief communication (Original)

Online veröffentlicht: 31. Jan. 2017

Seitenbereich: 325 - 334

DOI: https://doi.org/10.5372/1905-7415.0903.401

SchlüsselwörterCongenital limb defects, genetic epidemiology, limb anomalies, polydactyly, syndactyly

© 2015 Karmoon Lal, Sajid Malik

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Figure 3

Clinical subtypes, laterality, and symmetry in CLDs

Demographic distribution of 165 index subjects with CLDs (with respect to gender and subpopulation)

Major categories of CLDs: distributions with respect to sex, subpopulation, and proportions

Pattern of affected limbs and the combination of involved limbs in the study subjects

Schlüsselwörter
Congenital limb defects, genetic epidemiology, limb anomalies, polydactyly, syndactyly