Table 1.
Summary of clinical features of all patients with LTBP4 pathogenic variants
| Citations | Our Patient | Urban et al. (2009) | Callewaert et al. (2013) | Su et al. (2015) | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 | P13 | P14 | P15 | P16 | P17 | P18 | |
| Sex | F | M | M | F | F | F | M | F | M | M | M | F | F | M | M | F | F | M |
| Age | 18 month | 9 month | 4 month | 7 year | 26 month | 23 years | 4 weeks | 3 months | 2 years | 10 years | 6 months | 6 months | 13 years | 6 weeks | 15 months | 14 years | 20 years | 6 weeks |
| Cause of death | − | PE | PE | − | PE | ‐ | PE | PE | PE | PE | PE PHrT | PHrT GP | BA | PE | NA | − | − | BD |
| Skin | ||||||||||||||||||
| Cutis laxa | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Craniofacial | ||||||||||||||||||
| Long philtrum | + | + | + | + | NA | − | NA | NA | + | NA | NA | + | + | − | − | + | + | NA |
| Fat midface | + | + | + | + | NA | − | NA | NA | − | NA | NA | − | − | − | − | NA | NA | NA |
| Narrow forehead | + | + | + | NA | + | − | NA | NA | + | NA | NA | + | + | + | − | + | NA | NA |
| Periorbital swelling | + | + | + | NA | NA | − | NA | NA | + | NA | NA | + | − | − | + | NA | NA | NA |
| Hypertelorism | + | + | + | NA | NA | − | NA | NA | + | NA | NA | + | + | − | + | NA | NA | NA |
| Depressed nasal bridge anteverted nares | + | + | + | NA | NA | + | NA | NA | + | NA | NA | + | − | + | + | + | NA | NA |
| Retrognathia, micrognathia or mandibular hypoplasia | + | + | + | + | + | − | NA | NA | − | NA | NA | − | − | − | − | NA | NA | NA |
| Wide suture or fontanels | + | + | + | NA | − | − | − | − | − | − | − | − | − | + | − | NA | NA | NA |
| Pulmonary | ||||||||||||||||||
| Tachypnea, respiratory distress | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | NA | NA |
| Pneumonia | + | + | − | − | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | + | NA | + |
| Laryngomalacia Tracheomalacia Bronchomalacia | − | − | + | NA | + | − | + | − | − | − | − | − | − | + | − | NA | NA | NA |
| Diaphragmatic hernia or eventration | + | − | + | + | + | + | − | − | + | + | − | + | − | + | + | NA | NA | NA |
| Emphysema | − | + | + | NA | + | + | + | + | + | + | + | + | + | + | + | NA | NA | NA |
| Gastrointestinal | ||||||||||||||||||
| Diverticula | − | − | + | + | NA | − | − | − | − | − | − | + | − | − | + | NA | NA | + |
| Intestinal dilation, tortuosity | + | + | + | NA | − | − | − | − | − | − | + | − | − | − | + | NA | NA | NA |
| Umbilical hernia | + | + | − | − | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Gastrointestinal reflux | − | − | − | + | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Rectal prolapse | − | − | − | + | + | − | − | − | − | + | − | − | − | − | NA | NA | NA | NA |
| Pyloric stenosis | − | − | + | − | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| Genitourinary | ||||||||||||||||||
| Bladder diverticula | − | + | + | + | NA | + | − | + | − | + | − | − | + | + | + | NA | − | + |
| Hydronephrosis | + | + | + | − | NA | − | + | − | − | − | − | − | − | + | NA | NA | NA | NA |
| Inguinal hernia | − | + | + | − | − | − | − | − | − | + | − | − | − | − | + | NA | NA | NA |
| Cardiovascular | ||||||||||||||||||
| Peripheral pulmonary artery stenosis | − | + | − | NA | + | + | + | − | + | − | − | + | + | − | + | + | + | + |
| Atrial septal defect or aneurysms | + | − | − | NA | − | − | − | − | − | + | − | + | − | − | − | − | + | + |
| Cardiac valve insufficiency | − | − | − | NA | − | − | − | − | + | − | + | − | + | + | + | − | − | |
| Pulmonary or aortic valve stenosis | − | − | − | NA | + | − | − | − | − | − | − | − | − | − | + | − | − | − |
| Pulmonary hypertension | − | + | − | NA | + | − | − | − | − | − | + | + | + | + | + | − | + | − |
| Patent foramen ovale | − | + | + | − | NA | − | − | − | − | − | − | − | − | + | + | − | − | − |
| Other | ||||||||||||||||||
| Joint laxity | + | + | + | + | + | + | − | − | − | − | − | − | − | + | NA | + | + | + |
| Muscular hypotonia | + | + | + | NA | + | − | + | − | + | − | − | + | − | + | + | NA | NA | + |
| Foot deformity | − | + | + | NA | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | + | NA |
Abbreviations: BD, breathing difficulties; Ba, brain abscesses; GP, gastric perforation; PE, pulmonary emphysema; PHrT, pulmonary hypertension; NA, not available.