Table 3.
Clinical Characteristics in Comparison to Other Related Syndromes
| Present Study | ARCL1 (FBLN4) | ARCL1 (FBLN5) | ARCL2 | ADCL | ATS | LDS | MFS | CCA | |
|---|---|---|---|---|---|---|---|---|---|
| Skin laxity | +++ | +++ | +++ | +++ | +++ | +++ | + | − | − |
| Lethal BPD | +++ | ++ | ++ | − | − | − | − | − | − |
| GI malformations | +++ | − | − | − | − | − | − | − | − |
| GU malformations | +++ | − | − | − | − | − | − | − | − |
| Arterial tortuosity | − | ++ | ++ | − | − | +++ | +++ | − | − |
| Aortic aneurysm | − | ++ | − | − | + | + | +++ | +++ | + |
| Aortic stenosis | − | − | +++ | − | − | − | − | − | − |
| Pulmonary artery stenosis | ++ | ++ | + | − | + | ++ | ++ | − | − |
| Microretrognathia | +++ | − | − | − | − | +++ | ++ | − | − |
| Hypertelorism | ++ | − | − | − | − | + | +++ | − | − |
| Wide fontanelles | ++ | − | − | +++ | − | − | − | − | − |
| Microcephaly | − | − | − | +++ | − | − | − | − | − |
| Long philtrum | +++ | +++ | +++ | +++ | +++ | − | − | − | − |
| Cleft palate, bifid uvula | − | − | − | − | − | ++ | +++ | − | + |
| Joint laxity | ++ | +++ | − | +++ | + | +++ | +++ | +++ | − |
| Joint contractures | − | − | − | − | − | ++ | ++ | − | +++ |
| Arachnodactily | − | ++ | − | − | − | + | ++ | +++ | +++ |
| Developmental delay, MR | − | − | − | +++ | − | − | + | − | − |
| Postnatal growth delay | +++ | + | + | ++ | − | − | − | − | − |
Abbreviations are as follows: ARCL1, autosomal-recessive cutis laxa type 1; FBLN4, fibulin-4; FBLN5, fibulin-5; ARCL2, autosomal-recessive cutis laxa type 2; ADCL, autosomal-dominant cutis laxa; ATS, arterial tortuosity syndrome; BPD, bronchopulmonary dysplasia; LDS, Loeys-Dietz syndrome; MFS; Marfan syndrome; CCA, congenital contractural arachnodactily; GU, genito-urinary; MR, mental retardation.
Symbols are as follows: +++, typical; ++, common; +, present; −, absent.
Data are based on the following studies: ARCL1 (FBLN4),13,14 ARCL1 (FBLN5),15–17 ARCL2,33 ADCL,5–9 ATS,20 LDS,34 MFS,34 CCA.35