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Table 2 Clinical features of individuals affected with R2726W FBN1 variant, according to the Revised Marfan criteria

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

  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
  1. 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
  2. A plus sign (+) denotes feature present, a minus sign (−) denotes feature absent
  3. Other abbreviations:
  4. F female, m male
  5. ND information not described
  6. TS Tall stature
  7. US/LS Upper segment/Lower segment
  8. Microdel microdeletion
  9. 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
  10. My Myopia, Ex Exotropia
  11. MI Metacarpal index above the mean
  12. NA Not applicable
  13. BA Behavior alterations
  14. ID Intellectual disability
  15. Ep C Epilepsy in childhood
  16. BD Brain defects
  17. HA Hyperlaxitud articular
  18. Ar Aracnodactyly