Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review

Table 1 Clinical skeletal features of individuals affected with R2726W FBN1 mutation according to Ghent criteria

	Individuals/Case number
Case number	1^a	2^a	3^a	4^a	5^a	6^a	7^b	8^b	9^c	10^d	11^d	12^d	13^e	14^e	15^e	16^f	17^g	18^g
Sex	f	m	f	m	f	m	m	f	F	m	m	m	m	f	m	m	m	f
Age	67	37	46	22	17	13	18	41	20	54	17	20	ND	ND	21	19	18	16
FBN1 Variant	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W	R2726W/C1928S	R2726W	R2726W	R2726W/17q21.31 microdel	R2726W/R636Gly	R2726W	R2726W
Heigh (cm/TS)	169/-	193/+	173/-	191/+	175.2/+	183/+	178/-	164	ND/-	ND/-	ND/-	ND/-	ND/-	ND/-	168/-	ND/-	175/-	166/-
Skeletal features
Major																		-
Pectus carinatum	-	-	-	-	+	+	-	-		-	-	-	-	-	-	-	-	-
Pectus excavatum requiring surgery	-	-	-	-	-	-	-	-		-	-	+	-	-	-	-	-	-
Arm span to height ratio >1.05	-	-	-	-	-	-	-	-		-	-	+	-	-	-	-	-	-
Wrist and thumb signs	-	-	-	-	-	-	-	-		+	-	+	-	-	-	-	-	-
Scoliosis or spondylolisthesis	-	-	-	-	-	-	-	-		-	-	+	-	+	+	-	+	-
Reduced extension at the elbows	-	-	-	-	-	-	-	-		-	-	-	-	-	-	-	-	-
Pes planus	-	-	-	-	-	+	-	-		-	+	+	-	-	-	-	-	-
Protrusio acetabulae of any degree (RX)	-	-	-	-	-	-	-	-		ND	ND	ND	-	-	-	-	-	-
Minor																	-	-
Pectus excavatum of moderate severity	-	-	-	-	-	-	-	-		+	+	-	-	-	-	-	+	+
Joint hypermobility	-	-	-	-	-	+	-	-		-	+	+	-	-	-	-	-	-
High arched palate with crowding of teeth	-	-	-	-	-	HAP	-	-		-	-	+	+	HAP	CT	-	-	-
Facial appearance	-	-	-	-	-	-	+	-	-	-	-	+	-	-		-	+	+
Cardiovascular features	-	-	-	-	-	-	TVP	-	MVP	-	-	AoDil, AoDis	-		-	AI, BAV, MVP	-	-
Ocular features	-	-	-	-	-	-	My, Ex	-	My	-	-		My	-	My	My	-	-
Additional features	-	-	-	MI	-	-	AR, BA, ID, Ep C, BD	Ep C	St	-	HA	HA, St	Do, Ar	Do, St	Do, Ar, Ep,	-	En, MH, R, HAP, CT	En, MH, R

Individuals reported by: ^aMilewicz et al. 1995 [18]; ^bBuoni et al. 2004 [19]; ^cAttanasio et al. 2008 [32]; ^dVan Dijk 2009 [20]; ^eCallier et al. 2013 [31]; ^fPepe et al. 2014 [30]; ^gThis report
A plus sign (+) denotes feature present, a minus sign (−) denotes feature absent
Other abbreviations:
F female, m male
ND information not described
TS Tall stature
US/LS Upper segment/Lower segment
Microdel microdeletion
Facial features: Do Dolichocephaly, En Enophthalmos, DPF Downslanting palpebral fissures, MH Malar hypoplasia, R Retrognatia, HAP High arched palate, CT Crowded teeth, TVP Tricuspide valve prolapse, MPV Mitral prolapse valve, AoDil Aorta dilatation, AoDis Aortic disection, BAV Bivalva aortic valve, AI Aortic insufficiency
My Myopia, Ex Exotropia
MI Metacarpal index above the mean
BA Behavior alterations
ID Intellectual disability
Ep C Epilepsy in childhood
BD Brain defects
Ar Aracnodactyly

ISSN: 1471-2474