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Table 1 Summary of clinical features of all patients with LTBP4 pathogenic variants

From: Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Citations This report P1 [2] P2 [3] P3 [3] P4 [3] P5 [3] P6 [10] P7 [10] P8 [10] P9 [10] P10 [10] P11 [10] P12 [10] P13 [10] P14 [10] P15 [11] P16 [11] P17 [11] P18 [11] P19 [12] P20 [12] Ration
Gender/age F/
28D
F/
18MO
M/
9MO
M/
4MO
F/
7Y
F/
26MO
F/
23Y
M/
4W
F/
3MO
M/
2Y
M/
10Y
M/
6MO
F/
6MO
F/
13Y
M/
6W
M/
15MO
F/
14Y
F/
20Y
M/
6W
F/
8Y
M/
4Y
M/F:1.1:1
4.74 ± 6.95
Country/Race CN VEN ESP MEX PLE ESP NA NA NA NA NA NA NA NA NA White White White TUR IN IN
Cutis laxa + + + + + + + + + + + + + + + + + + + + + 100.00%
Joint laxity + + + + + + + + NA + + + 55.00%
Craniofacial
 Consanguinity + + + + + + + + + + + 52.38%
 Long philtrum + + + + + NA NA NA + NA NA + + + + NA + + 80.00%
 Fat midface + + + + + NA NA NA NA NA NA NA NA + + 53.85%
 Narrow forehead + + + + NA + NA NA + NA NA + + + + NA NA + + 85.71%
 Periorbital swelling + + + NA NA NA NA + NA NA + + NA NA NA NA NA 60.00%
 Hypertelorism + + + + NA NA NA NA + NA NA + + + + + + NA NA 84.62%
 Depressed nasal bridge anteverted nares + + + + NA NA NA NA + NA NA + + + + NA NA NA NA 81.82%
 Micrognathia + + + + + + NA NA NA NA NA NA NA + + 57.14%
Pulmonary
 Respiratory distress + + + + + + + + + + + + + + + + + NA NA 89.47%
 Pneumonia + + + + NA NA NA NA NA NA NA NA NA + + NA + 63.64%
 Laryngomalacia tracheomalacia bronchomalacia + + NA + + + NA NA NA 29.41%
 Diaphragmatic hernia or eventration + + + + + + + + + + NA NA NA 55.56%
 Emphysema + + + NA + + + + + + + + + + + NA NA NA + + 94.12%
Gastrointestinal
 Diverticula + + NA + + NA NA + 27.78%
 Intestinal dilation + + + + NA + + NA NA + 38.89%
 Rectal prolapse + + + NA NA NA NA 17.65%
Genitourinary
 Bladder diverticula + + + + NA + + + + + + NA + + + 68.42%
 Hydronephrosis + + + NA + + NA NA NA NA + 37.50%
 Inguinal hernia + + + + NA NA NA 22.22%
Cardiovascular
 Peripheral pulmonary artery stenosis + NA + + + + + + + + + + 55.00%
 Atrial septal defect or aneurysms + NA + + + + + 30.00%
 Cardiac valve insufficiency NA NA + + + + + 26.32%
 Pulmonary or aortic valve stenosis NA + + 10.00%
 Pulmonary hypertension + NA + + + + + + + 40.00%
 Patent foramen ovale + + + NA + + 25.00%
 Hypotonia + + + NA + + + + + + NA NA + + 61.11%
 Death or not + + + + + + + + + + + NA + 60.00%
  1. CN China, VEN Venezuelan, ESP hispanic, MEX Mexican, PLE Palestinian, TUR Turkish, IN India, NA not available, F female, M man, D day, Y year, MO month