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

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

  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
  1. 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
  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. BA Behavior alterations
  13. ID Intellectual disability
  14. Ep C Epilepsy in childhood
  15. BD Brain defects
  16. Ar Aracnodactyly