Table 1.
Clinical skeletal features of individuals affected with R2726W FBN1 mutation according to Ghent criteria
| Individuals/Case number | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case number | 1a | 2a | 3a | 4a | 5a | 6a | 7b | 8b | 9c | 10d | 11d | 12d | 13e | 14e | 15e | 16f | 17g | 18g |
| 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