Demographic variables | Male | Female | Total |
---|---|---|---|
≤9 | 52 | 38 | 90 |
10-19 | 49 | 49 | 98 |
20-29 | 17 | 9 | 26 |
≥30-39 | 17 | 15 | 32 |
Rural | 117 | 94 | 211 |
Urban | 18 | 17 | 35 |
Total | 135 | 111 | 246 |
Turi | 66 | 53 | 119 |
Bangash | 38 | 40 | 78 |
Syed | 18 | 13 | 31 |
Others | 13 | 5 | 18 |
Differences in the distribution were significant | |||
Low | 13 | 9 | 22 |
Low-mid | 56 | 57 | 113 |
Mid | 46 | 40 | 86 |
High-mid | 20 | 5 | 25 |
Malformation (major/minor) | No. of cases | Proportion | 95% CI | OMEM Online Mendelian Inheritance in Man, and International Classification of Disease–10 database identifier/Entrez number, CI, confidence interval. | ICD-10 Online Mendelian Inheritance in Man, and International Classification of Disease–10 database identifier/Entrez number, CI, confidence interval. |
---|---|---|---|---|---|
Mental retardations | 49 | 0.199 | 0.149,0.249 | 300243 | F03 |
Down syndrome | 11 | 0.045 | 0.019,0.071 | 190685 | Q90 |
Microcephaly | 6 | 0.024 | 0.005,0.044 | 251200 | Q02 |
Spina bifida | 4 | 0.016 | 0.001, 0.032 | 182940 | Q05, Q76.0 |
Cerebral palsy (unspecified) | 3 | 0.012 | -0.002,0.026 | 605388 | G80.9 |
Quadriplegia | 2 | 0.008 | -0.003,0.019 | G82.5 | |
Spastic cerebral palsy | 2 | 0.008 | -0.003,0.019 | 603513 | G80.0 |
Ataxia telangiectasia | 0.004 | -0.004,0.012 | 208900 | G11.3 | |
Cerebral atrophy | 0.004 | -0.004,0.012 | G31.9 | ||
Dystonic cerebral palsy | 0.004 | -0.004,0.012 | G80.3 | ||
Epilepsy | 0.004 | -0.004,0.012 | 607208 | G40 | |
Psychoneurosis | 0.004 | -0.004,0.012 | F41.1 | ||
Schizophrenia | 0.004 | -0.004,0.012 | 181500 | F20 | |
Dwarfisms | 19 | 0.077 | 0.044,0.111 | 100800 | Q77.4 |
Arthrogryposis | 8 | 0.033 | 0.010,0.055 | 108110 | Q74.3 |
Hip dysplasia/dislocation | 4 | 0.016 | 0.001,0.032 | 42700 | Q65 |
Spinal muscular atrophy | 4 | 0.016 | 0.001,0.032 | 253300 | G12.1 |
Muscular dystrophy | 3 | 0.012 | -0.002,0.026 | 310200 | G71.0 |
Osteogenesis imperfecta | 3 | 0.012 | -0.002,0.026 | 166200 | Q78.0 |
Congenital dislocation of patella | 2 | 0.008 | -0.003,0.019 | 169000 | Q74.1 |
Congenital kyphosis | 2 | 0.008 | -0.003,0.019 | Q76.4 | |
Congenital scoliosis | 2 | 0.008 | -0.003,0.019 | Q76.3 | |
Ellis-van Creveld syndrome | 2 | 0.008 | -0.003,0.019 | 225500 | Q77.6 |
Vitamin-D resistant rickets | 2 | 0.008 | -0.003,0.019 | 277440 | E83.3 |
Congenital patellar syndrome | 1 | 0.004 | -0.004,0.012 | 147891 | Q74.1 |
Exostosis | 1 | 0.004 | -0.004,0.012 | 133700 | Q78.6 |
Hypotonia | 1 | 0.004 | -0.004,0.012 | P94.2 | |
Nail-patella syndrome | 1 | 0.004 | -0.004,0.012 | 161200 | Q87.2 |
Pfeiffer syndrome | 1 | 0.004 | -0.004,0.012 | 101600 | |
Amputations/deficiency | 20 | 0.081 | 0.047,0.116 | 217100 | Q73.0, Q72.0 |
Polydactyly | 12 | 0.049 | 0.022-0.076 | 603596 | Q69.9, Q69 |
Clubfoot | 8 | 0.033 | 0.010,0.055 | 119800 | Q66.89, Q66.0 |
Syndactyly | 8 | 0.033 | 0.010,0.055 | 609815 | Q70.9 |
Brachydactyly | 3 | 0.012 | -0.002,0.026 | 112500 | Q68.1 |
Clinodactyly | 1 | 0.004 | -0.004,0.012 | Q74.0 | |
Deaf-mute | 17 | 0.069 | 0.037,0.101 | 304400 | Q18 |
Usher syndrome | 1 | 0.004 | -0.004,0.012 | 276901 | H35.5 |
Ichthyosis | 7 | 0.029 | 0.008,0.049 | Q80 | |
Early tooth decay | 2 | 0.008 | -0.003,0.019 | K02 | |
Albinism | 1 | 0.004 | -0.004,0.012 | 300500 | E70.3 |
Alopecia areata | 1 | 0.004 | -0.004,0.012 | 104000 | L63 |
Anophthalmia | 3 | 0.012 | -0.002,0.026 | Qll.l | |
Blindness | 2 | 0.008 | -0.003,0.019 | H54.1 | |
Squint eyes | 1 | 0.004 | -0.004,0.012 | 231000 | Q10 |
Cleft palate | 2 | 0.008 | -0.003,0.019 | Q35 | |
Bilateral ureteric reflux | 1 | 0.004 | -0.004,0.012 | N13.7 | |
Metachromatic leukodystrophy | 1 | 0.004 | -0.004,0.012 | 250100 | E75.2 |
Thalassemia | 1 | 0.004 | -0.004,0.012 | 613985 | D56 |
Popliteal pterygium syndrome | 1 | 0.004 | -0.004,0.012 | 119500 | Q79.8 |
Congenital anomaly | Index participant | Familial/sporadic nature differences in the distribution were statistically significant | Isolated/syndromic presentation differences in the distribution were statistically significant | Total affected in all families | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Male | Female | Total | Familial | Sporadic | Isolated | Syndromic | Male | Female | Both | |
Neurological disorder | 46 | 37 | 83 | 17 | 66 | 41 | 42 | 64 | 47 | 111 |
Musculoskeletal defects | 29 | 27 | 56 | 23 | 33 | 31 | 25 | 53 | 52 | 105 |
Limb defects | 28 | 24 | 52 | 13 | 39 | 46 | 6 | 66 | 57 | 123 |
Sensorineural/ear defects | 9 | 9 | 18 | 13 | 5 | 18 | 0 | 36 | 25 | 61 |
Ectodermal anomalies | 6 | 5 | 11 | 6 | 5 | 11 | 0 | 21 | 28 | 49 |
Congenital heart defects | 6 | 4 | 10 | 1 | 9 | 8 | 2 | 6 | 5 | 11 |
Eye/visual impairments | 5 | 1 | 6 | 1 | 5 | 6 | 0 | 9 | 5 | 14 |
Growth retardation | 2 | 2 | 4 | 0 | 4 | 3 | 1 | 2 | 2 | 4 |
Others | 4 | 2 | 6 | 3 | 3 | 6 | 0 | 9 | 6 | 15 |
Congenital anomalies | Disease segregating generations | No. of affected siblings | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
I | II | III | IV | 1 | 2 | 3 | 4 | ≥5 | ||
Neurological disorders | 13 | 3 | 0 | 1 | 8 | 8 | 0 | 0 | 1 | |
Musculoskeletal defects | 16 | 6 | 0 | 1 | 11 | 8 | 3 | 0 | 1 | |
Limb defects | 4 | 3 | 2 | 4 | 0 | 7 | 1 | 1 | 4 | |
Sensorineural/ear defects | 2 | 2 | 2 | 0 | 1 | 2 | 1 | 0 | 2 | |
Ectodermal anomalies | 7 | 5 | 0 | 1 | 5 | 3 | 3 | 0 | 2 | |
Congenital heart defects | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | |
Eye/visual impairments | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | |
Growth retardation | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Others | 2 | 1 | 0 | 0 | 1 | 1 | 0 | 1 | 0 | |
Congenital anomalies | No. of cases | Parity of index subject (in No. of cases) | Size of normal sibships (in No. of cases) | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1st | 2nd | 3rd | 4th | ≥5th | mean (SD) | 0 | 1-2 | 3-4 | 5-6 | ≥7 | Mean (SD) | ||
Neurological disorders | 66 | 16 | 5 | 11 | 8 | 26 | 4.24 (2.85) | 2 | 11 | 17 | 14 | 22 | 4.84 (2.57) |
Musculoskeletal defects | 33 | 8 | 4 | 7 | 5 | 9 | 3.52 (2.29) | 1 | 6 | 13 | 6 | 7 | 4.45 (2.56) |
Limb defects | 39 | 7 | 12 | 6 | 4 | 10 | 3.48 (2.44) | 1 | 12 | 8 | 10 | 8 | 4.43 (3.04) |
Sensorineural defects | 5 | 2 | 0 | 0 | 1 | 2 | 3.40 (2.30) | 1 | 2 | 1 | 1 | 0 | 2.40 (1.82) |
Ectodermal anomalies | 5 | 0 | 2 | 0 | 0 | 3 | 4.80 (2.95) | 0 | 2 | 0 | 2 | 1 | 4.20 (2.77) |
Congenital heart defects | 9 | 2 | 1 | 2 | 2 | 2 | 3.56 (2.46) | 1 | 3 | 3 | 1 | 1 | 3.22 (2.17) |
Eye/visual impairments | 5 | 2 | 0 | 0 | 1 | 2 | 4.60 (3.91) | 0 | 0 | 2 | 3 | 0 | 4.40 (1.34) |
Growth retardation | 4 | 0 | 0 | 0 | 0 | 4 | 7.24 (1.25) | 0 | 0 | 1 | 1 | 2 | 6.75 (2.50) |
Others | 3 | 1 | 1 | 0 | 0 | 1 | 3.33 (3.21) | 1 | 0 | 1 | 1 | 0 | 3.00 (3.00) |
Limb defects | No. of cases (n=52) | Total affected limps (n=82) | Upper limb (n=42) | Lower limb (n=40) | No. of cases with involvement | No. of limbs involved | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RA | LA | RL | IL | Arms only | Arms only | Both | Any 1 | Any 2 | Any 3 | Any 4 | |||
Amputation | 20 | 28 | 14 | 10 | 1 | 3 | 16 | 1 | 3 | 15 | 2 | 3 | 0 |
Polydactyly | 12 | 20 | 7 | 4 | 5 | 4 | 6 | 4 | 2 | 8 | 2 | 0 | 2 |
Clubfoot | 8 | 12 | 0 | 0 | 5 | 7 | 0 | 8 | 0 | 4 | 4 | 0 | 0 |
Syndactyly | 8 | 15 | 2 | 2 | 5 | 6 | 2 | 6 | 0 | 1 | 7 | 0 | 0 |
Brachydactyly | 3 | 5 | 0 | 1 | 2 | 2 | 1 | 2 | 0 | 1 | 2 | 0 | 0 |
Clinodactyly | 1 | 2 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 2 | 0 | 0 |
Total | 52 | 82 | 24 | 18 | 18 | 22 | 26 | 21 | 5 | 29 | 19 | 3 | 2 |
Variable | Parental marriage type | Total cases | |
---|---|---|---|
Consanguineous | Nonconsanguineous | ||
Male | 73 | 62 | 135 |
Female | 63 | 48 | 111 |
Differences in the distribution were significant | |||
Familial | 53 | 24 | 77 |
Sporadic | 83 | 86 | 169 |
Associations | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Major presentation | No. of cases | Delayed milestones | Squint eyes | Digit defects | Neuromuscular defects | Deaf/mute | Scoliosis | Clubfoot | Blindness | Microcephaly | Nail atrophy | Others | Total |
Mental Retardation | 24 | 6 | 4 | 1 | 4 | 5 | 1 | 1 | 1 | Bulging eyes (2), Epilepsy (3), Muscular dystrophy (3) Delayed puberty (1) | 32 | ||
Dwarfism | 12 | 1 | 1 | 2 | 1 | 1 | 1 | Webbed neck (4), Ribs dislocation (1), Delayed puberty (1) | 13 | ||||
Microcephaly | 6 | 1 | 1 | 1 | Mental retardation (4) | 7 | |||||||
Amputation | 5 | 3 | 2 | 1 | 1 | 7 | |||||||
Down syndrome | 4 | 1 | 4 | 1 | Dental decay (1) | 7 | |||||||
Osteogenesis | 3 | 1 | 1 | 1 | 3 | ||||||||
imperfecta | |||||||||||||
Cerebral palsy | 3 | 3 | 2 | 5 | |||||||||
Congenital heart | 2 | 1 | 1 | 1 | 3 | ||||||||
defect | |||||||||||||
Arthrogryposis | 2 | 2 | 2 | ||||||||||
Clubfoot | 1 | 1 | 1 | ||||||||||
Muscular | 1 | 1 | 1 | ||||||||||
dystrophy | |||||||||||||
Congenital | 1 | 1 | 2 | ||||||||||
scoliosis | Cleft palate (1) | ||||||||||||
Quadriplegia | 1 | 1 | 1 | ||||||||||