Table 1. Clinical features of patients carrying a complete FBN1 allele deletion described in this study.
Patient | Age | Gender | MR | Aortic root dilatation | Aortic root surgery (age) | Aorta dissection (age) | MVP | Eye (age) | Skeletal | Face | Skin | Pneumothorax | DE | Family | Ghent | Other |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 41 | F | No | Yes | No | No | Yes | EL, lens extraction (36) | Arachnodactyly, hypermobility | Normal | Normal | No | NP | Pos | Yes | |
2 | 39 | F | No | Yes | Yes (34) | No | Yes | Myopia | Arachnodactyly, hypermobility | High palate | Recurrent herniae | No | No | Pos | Yes | |
3 | 16 | M | No | Yes | No | No | No | Myopia | Pectus carinatum, flat feet, hypermobility | High palate | Normal | No | NP | Pos | Yes | |
4 | 13 | F | No | Yes | No | No | Yes | Dubious EL | Pectus carinatum, flat feet, hypermobility, | High palate | Normal | No | NP | Pos | Yes | |
5 | 27 | F | No | Yes | No | No | No | No | Flat feet, elbow contracture, scoliosis, pectus excavatum, hypermobility | High palate | Normal | No | NP | Pos | Yes | |
6 | 21 | F | No | No, but cloverleaf appearance | No | No | No | Mild EL right eye, left eye normal | Severe pectus excavatum, flat feet, scoliosis | High and narrow palate, marfanoid face | Normal | No | Yes | Neg | Yes | |
7 | 34 | M | No | Yes | Yes (27) | No | No | EL | Pectus excavatum, arachnodactyly, scoliosis, hypermobility | Long face, high palate | Stretch marks | Yes | NP | Neg | Yes | Congenital hip dislocation |
8 | 5 | F | Yes | On P95 | No | No | Billowing | Translucent irides | Arachnodactyly, hypermobility, flat feet, long toes | Mild dysmorphisms | Normal | No | NP | Neg | No | Hypotonia, |
9 | 13 | F | Yes | On P95 | No | No | Yes | Anisohypermetropia, amblyopia | Arachnodactyly, hypermobility, pectus excavatum, flat feet | Pale skin and hair, dysmorphisms | General hypo-pigmentation | No | No | Neg | No | Ataxia |
10 | 8 | M | No | On P95 | No | No | No | No | Arachnodactyly, hypermobility, pectus carinatum, mild scoliosis | High palate | Normal | No | NP | Pos | No |
Abbreviations: DE, dural ectasia; EL, ectopia lentis; Ghent, Ghent criteria [ref] MR, mental retardation; MVP, mitral valve prolapse; Neg, negative; NP, not performed; Pos, positive.