Table 2.
Clinical features observed in Family 1 and Family 2 harboring sequence variants in FBN1 and FBN2
| Family 1 | Family 2 | |||||||
|---|---|---|---|---|---|---|---|---|
| Clinical features | Ab6 | Ab1 | Ab2 | Ab4 | Ab3 | Ac3 | Ac1 | Ac2 |
| Age at examination (years) / Sex | 70 / M | 15 / F | 12 / F | 45 / M | 46 / F | 58 / F | 21 / M | 53 / M |
| Affected gene | FBN1 | FBN1 | FBN1/FBN2 | FBN1/FBN2 | FBN2 | FBN1 | FBN1/FBN2 | FBN2 |
| MFS‐associated features 55 | ||||||||
| Pes valgus | + | − | − | + | − | − | − | (+) |
| Pes planus | (+) | + | + | + | + | + | + | − |
| Pneumothorax | − | − | − | − | − | − | − | +a |
| Reduced elbow extension (r / l) | + / + | >180° / >180° | + / + | + / + | – / – | >180° / >180° | >180° / >180° | – / – |
| 3 of 5 facial features (dolichocephaly, enophthalmus, malar hypoplasia, retrognathia, downslanting fissures) | − | − | − | − | − | − | + | − |
| Skin striae | + | − | − | − | (+) | − | − | + |
| Myopia (>3 diopters) | − | + | − | − | − | − | + | + |
| Aortic dilatation (cm) | n/a | − | − |
+ (4.9) (Z.score: >2.0) |
− | − |
+ (4.1) (Z‐score: >2.0) |
− |
| Ghent nosology systemic score | <7 | <5 | 7 | >7 | <7 | <5 | >7 | <7 |
| CCA‐associated features 24 | ||||||||
| Contractures | ||||||||
| Fingers (r / l) | – / – | – / – | + / + | + / + | + / + | – / – | – / – | + / + |
| Elbow (r / l) | + / +b | – / – | + / + | + / + | – / – | – / ‐ | ‐ / ‐ | – / ‐ |
| Hip | n/a | − | − | n/a | n/a | − | − | − |
| Knee (r / l) | – / – | – / ‐ | ‐ / ‐ | – / ‐ | ‐ / ‐ | – / ‐ | ‐ / ‐ | – / ‐ |
| Crumpled ears (remark) | − | − | – (small ears) | + | − | − | − | − |
| MFS‐ and CCA‐associated features | ||||||||
| Palatal arch | n/a | narrow | high | n/a | n/a | normal | high | high |
| Mitral valve prolapse | − | − | − | − | (+) | − | − | − |
| US/LS ratio < 0.85 (height, cm) | – (172) | – (163.5) | – (159) | + (179.5) | + (171) | – (168) | – (188) | – (195) |
| Armspan/height ratio > 1.05 (armspan, cm) | – (180.5) | – (163.5) | – (159) | – (188.5) | – (179.5) | – (169) | + (205) | – (198.5) |
| Scoliosis or thoracolumbar kyphosis | (+) | − | + | − | (+) | (+) | + | − |
| Wrist sign | − | − | + | + | − | − | + | + |
| Thumb sign | − | − | + | + | − | − | + | + |
| Pectus abnormity | − | + (carinatum) | + (excavatum) | + (carinatum & excavatum) | (+) (carinatum) | − | + (carinatum) | − |
Note: Sequence variants detected in Family 1: FBN1 (NM_000138.4) c.8489A>G p.(Gln2830Arg) and FBN2 (NM_001999.3) c.3974‐26T>G p.(Asn1327_Val1368del), sequence variants detected in Family 2: FBN1 c.6595G>A p.(Gly2199Ser) and FBN2 c.3481G>A p.(Glu1161Lys).
Abbreviations: +, present; −, absent; (+), mildly present; CCA, congenital contractural arachnodactyly; F, female; l, left; LS, lower segment; M, male; MFS, Marfan syndrome; n/a, information not available; r, right; US, upper segment.
Pneumothorax due to tuberculosis infection during adolescence.
Likely explained by his old age of 70 years at examination.