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.