Table 2.
Clinical features of individuals affected with R2726W FBN1 variant, according to the Revised Marfan criteria
| Individuals/Case number | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case number | Score | 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 eatures Score System | |||||||||||||||||||
| Arm span to height ratio | 1 | − | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | − | − |
| Wrist and thumb sign | 3 | − | − | − | − | − | − | − | − | − | + | + | + | − | − | − | − | − | − |
| Wrist or thumb sign | 1 | − | − | − | − | − | − | − | − | − | − | − | − | − | − | + | − | − | − |
| Pectus carinatum deformity | 2 | + | − | − | − | − | − | + | − | − | − | − | − | − | − | − | − | − | − |
| Pectus excavatum or chest assymetry | 1 | − | − | − | − | − | − | − | − | − | + | + | + | − | − | − | − | + | + |
| Hindfoot deformity | 2 | − | − | − | − | − | − | + | − | − | − | − | + | − | − | − | − | − | − |
| Pes planus | 1 | + | − | − | − | − | − | − | − | − | − | + | + | − | − | − | − | − | − |
| Protrusio acetabuli | 2 | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | ||
| Reduced US/LS and increased arm/height and no severe scoliosis | 1 | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Scoliosis or thoracolumbar kyphosis | 1 | + | − | − | − | − | − | − | − | − | − | + | − | − | + | CT | − | + | − |
| Reduced elbow extension | 1 | − | − | − | − | − | − | − | − | − | − | − | − | − | HAP | − | − | − | − |
| Facial features (3/5) | 1 | + | − | − | − | − | − | + | − | − | − | − | + | − | − | − | − | + | + |
| 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, HA, 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]; fPepe 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
NA Not applicable
BA Behavior alterations
ID Intellectual disability
Ep C Epilepsy in childhood
BD Brain defects
HA Hyperlaxitud articular
Ar Aracnodactyly