Table 2.
Clinical Features Associated with LTBP4 Mutations
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
| Skin | ||||
| Cutis laxa | + | + | + | + |
| Craniofacial | ||||
| Long philtrum | + | + | + | ? |
| Flat midface | + | + | + | ? |
| Receding forehead | + | + | ? | + |
| Periorbital swelling | + | + | ? | ? |
| Hypertelorism | + | + | ? | ? |
| Wide nasal bridge | + | + | ? | ? |
| Retrognathia, micrognathia, or mandibular hypoplasia | + | + | + | + |
| Wide sutures or fontanelles | + | + | ? | − |
| Pulmonary | ||||
| Tachypnea, respiratory distress | + | + | + | + |
| Tracheal tube | − | + | + | − (declined) |
| Lanryngo-, tracheo-, or bronchomalacia | − | + | ? | + |
| Emphysema or hypoplastic lung | + | + (1) | ? | + (1) |
| Diaphragmatic hernia or eventration | − | + (2) | 2× (3, 4) | + (5) |
| Pneumonia | + | − | − | + |
| Cardiovascular | ||||
| Pulmonary artery stenosis | + (6) | − | ? | + (7) |
| Patent foramen ovale | + | + | − | ? |
| Gastrointestinal | ||||
| Gastro-esophageal reflux | − | − | + | + |
| Diverticula | − | a. colon | gastric | ? |
| Gastric tube | + | + | + | + |
| Pyloric stenosis | − | + | − | + |
| Intestinal dilation, tortuosity | + (8) | + (9) | ? | − |
| Umbilical hernia | + | − | − | + |
| Rectal prolapse | − | − | + | + |
| Genitourinary | ||||
| Bladder diverticula | + | + | + | ? |
| Hydronephrosis | + (left) | + | − | ? |
| Inguinal hernia | + | bilateral | − | − |
| Musculoskeletal | ||||
| Joint laxity | + | + | + | + |
| Low muscle tone | + | + | ? | + |
| Widely spaced first and second toes | + | + | ? | + |
| Plantar crease | + | + | ? | − |
| Growth Delay | ||||
| Prenatal | − | − | + | − |
| Postnatal | + | + | + | + |
| Survival | ||||
| Age at death (mo) | 9 | 4 | − | 26 |
| Cause of death | resp | resp | − | resp |
| Lab | ||||
| Ceruloplasmin (mg/dL) | normal (10) | 13 (normal) | ? | ? |
| Copper (μg/L) | normal | 384 (low) | ? | normal |
| Chromosomes | ? | normal | normal | normal |
Data are indicated as follows: +, present; -, absent; ?, unknown; 2×, recurrent; a. colon, ascending colon; resp, respiratory; (1) hyperinflation, atelectasis, cystic change; (2) eventration; (3) hiatal hernia; (4) Morgagni hernia; (5) Bochdalek hernia; (6) left, right, and peripheral pulmonary stenoses, right ventricular hypertrophy; (7) pulmonary valve and infundibular stenosis, pulmonary hypertension; (8) tortuous duodenum; (9) dilated ileocecal junction, lacks valve; (10) initially low.