Table 1.

Summary of the clinical features in the family of case 9

	III-1
	Case 9	III-3	II-6	II-7	II-15	I-5	I-6	I-1	II-1	II-2	II-3	II-4	II-5	II-8	II-9	II-12
Age at examination (years)	10	22	42	43	9	57	56	61	44	41	37	35	33	55	48	37
Sex	M	F	M	F	M	M	F	M	M	M	F	M	F	M	F	F
height (cm)	150,5	180,9	167,1	174,4	135,0	164,0	157,5	166,0	167,5	174,5	167,0	188,5	161,0	181,0	164,7	161,0
height SDS (for Turkish descent)	1,6	3,7	-1,2	2,5	-0,2	-1,7	-0,6	-1,4	-1,1	0,1	1,1	2,5	0,8	1,2	0,7	0,2
arm span : height ratio	1,02	0,97	1,04	1,00	1,00	1,01	1,03	1,01	1,06	1,04	0,98	0,99	1,02	1,07	1,02	1,03
sitting height: height ratio	0,488	0,515	0,536	0,513	np	0,535	0,528	0,519	0,527	0,517	0,531	0,516	0,523	0,482	0,520	0,526
sitting height: height ratio SDS	-2,0	-0,8	1,6	-0,8	np	1,5	0,2	0,3	1,0	0,3	0,3	0,2	0,0	-1,8	-0,4	0,0
Skeletal system	involv	involv	none	none	involv	none	none	none	none	none	none	none	none	involv	none	none
major
pectus carinatum	no	no	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
pectus excavatum requiring	no	no	no	no	no	no	no	no	no	no	no	no	no	no	no	no
surgery
sitting height: height ratio <2
SD or armspan : height ratio	yes	no	no	no	np	no	no	no	yes	no	no	no	no	yes	no	no
>1.05
wrist and thumbsigns	no	no	no	no	no	no	no	no	no	no	no	no	no	no	no	no
scoliosis of >20° or
spondylolisthesis	no	no	no	no	np	no	no	no	no	no	no	no	no	no	no	no
reduced extension at the elbow
(<170°)	no	yes	no	yes	np	no	no	no	no	no	no	no	no	no	yes	no
pes planus	yes	yes	no	no	yes	no	no	no	no	no	no	yes	no	yes	no	no
protrusio acetabulae	np	np	np	np	np	np	np	np	np	np	np	np	np	np	np	np
minor
pectus excavatum of moderate severity	no	no	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
joint hypermobility	no	no	no	no	np	no	no	no	no	no	no	no	no	no	no	no
highly arched palate with crowding	no	yes	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
facial appearance	no	yes	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
Ocular system	major	major	none	none	major	none	none	none	none	none	none	none	none	none	none	none
major
ectopia lentis	yes	yes	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
minor
abnormally flat cornea	np	np	np	np	np	no	no	no	no	no	no	no	no	no	no	no
increased axial length of globe	np	np	np	np	np	np	np	np	np	np	np	np	no	no	no	no
hypoplastic iris or ciliary muscle	np	np	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
Cardiovascular system	major	major	none	none	major	none	none	none	involv	none	none	none	none	none	none	none
major
Z-score aortic root diameter	10,51	4	0.3	-1.4	>22	-0.9	-0.8	-1.8	1.4	-1.1	-0.8	-2.9	-2.5	0.4	0.5	0.8
dilatation ascending aorta	yes (arr)	yes	no	no	yes (arr)	no	no	no	no	no	no	no	no	no	no	no
dissection of ascending aorta	no	no	no	no	no	no	no	no	no	no	no	no	no	no	no	no
minor
mitral valve prolaps	yes	yes	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
dilatation of main pulmonary artery	no	no	no	no	np	no	no	no	no	no	no	no	no	no	no	no
calcification of the mitral annulus < 40 years	no	no	no	no	np	no	no	np	no	no	no	no	no	no	no	no
dilatation or dissection of descending aorta < 50 years	no	no	np	no	np	no	no	no	yes	no	no	no	no	no	no	no
Pulmonary system	involv	none	none	involv	none	none	none	none	none	none	none	none	none	none	none	none
minor
spontanous pneumothorax or apical blebs	yes	no	no	yes	no	no	no	no	no	no	no	no	no	no	no	no
Skin and integument	involv	none	none	involv	np	none	none	none	none	none	involv	involv	none	none	none	none
minor
striae atrophicae recurrent or incisional herniae	yes no	no no	no no	yes no	np np	no no	no no	no no	no no	no no	yes no	no yes3	no no	no no	no no	no no
Dura	np	major	none	major	np	np	np	np	np	np	np	np	np	np	np	np
major
lumbosacral dural ectasia	np	yes	no	yes	np	np	np	np	np	np	np	np	np	np	np	np
Family or genetic history	major4	major4	major4	major4	major4	major4	major4	major4	major4	major4	major4	major4	major4	major4	major4	major
major
1st degree relative with Marfan syndrome pathogenic mutation in FBN1	no hom	yes hom	yes het	yes het	no hom	yes het	yes het	no het	no het	no het	no het	no het	no het	no het	no het	no het

F female; M male; involve involvement; np not performed; arr aortic root replacement; homh mutation; Z-score related to body surface area and age according to Roman et al. (Roman et al., 1989); 1) aortic root measurement at the age of 14 years just before aortic root replacement; replacement; 2) no exact measurement available; 3) recurrent inguinal hernias during a period member or the presence of a pathogenic FBN1 mutation.