Table 2 Clinical features of all BGN variant-harboring individuals (n = 54) from extended Meester-Loeys syndrome cohort
From: Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Organ system | Clinical feature | Frequency total | % total | Frequency males | % males | Frequency females | % females |
|---|---|---|---|---|---|---|---|
Cardiovascular | Aortic root aneurysm | 19/54 | 35% | 14/25 | 56% | 5/29 | 17% |
Dilated ascending aorta | 6/42 | 14% | 5/19 | 26% | 1/23 | 4% | |
Aortic dissection | 4/49 | 8% | 3/22 | 14% | 1/27 | 4% | |
Arterial aneurysm | 9/36 | 25% | 7/16 | 44% | 2/20 | 10% | |
Arterial dissection | 4/32 | 13% | 4/13 | 31% | 0/19 | 0% | |
Mitral valve prolapse | 3/30 | 10% | 2/11 | 18% | 1/19 | 5% | |
Hypertension | 9/33 | 27% | 1/11 | 9% | 8/22 | 36% | |
Skeletal | Pectus deformity | 7/45 | 16% | 5/21 | 24% | 2/24 | 8% |
Spine deformity | 8/36 | 22% | 5/14 | 36% | 3/22 | 14% | |
Dolichostenomelia | 2/27 | 7% | 1/10 | 10% | 1/17 | 6% | |
Arachnodactyly | 8/40 | 20% | 6/20 | 30% | 2/20 | 10% | |
Brachydactyly | 6/37 | 16% | 4/16 | 25% | 2/21 | 10% | |
Spatulous fingers | 4/36 | 11% | 3/16 | 19% | 1/20 | 5% | |
Flat feet | 14/39 | 36% | 9/19 | 47% | 5/20 | 25% | |
Club foot | 1/30 | 3% | 1/12 | 8% | 0/18 | 0% | |
Joint hypermobility | 21/45 | 47% | 12/21 | 57% | 9/24 | 38% | |
Joint dislocation | 4/42 | 10% | 3/18 | 17% | 1/24 | 4% | |
Joint contracture | 8/43 | 19% | 7/19 | 37% | 1/24 | 4% | |
Reduced bone density | 6/13 | 46% | 4/7 | 57% | 2/6 | 33% | |
Short stature | 9/42 | 21% | 7/21 | 33% | 2/21 | 10% | |
Tall stature | 6/42 | 14% | 5/21 | 24% | 1/21 | 5% | |
Craniofacial | Dolichocephaly | 5/37 | 14% | 4/17 | 24% | 1/20 | 5% |
Frontal bossing | 5/37 | 14% | 5/17 | 29% | 0/20 | 0% | |
Hypertelorism | 9/44 | 20% | 6/20 | 30% | 3/24 | 13% | |
Downslanting palpebral fissures | 9/38 | 24% | 6/17 | 35% | 3/21 | 14% | |
Proptosis | 7/37 | 19% | 4/17 | 24% | 3/20 | 15% | |
Malar hypoplasia | 10/38 | 26% | 7/18 | 39% | 3/20 | 15% | |
High-arched palate | 5/34 | 15% | 5/16 | 31% | 0/18 | 0% | |
Broad or bifid uvula | 2/34 | 6% | 2/17 | 12% | 0/17 | 0% | |
Gingival hypertrophy | 2/24 | 8% | 1/11 | 9% | 1/13 | 8% | |
Ocular | Myopia | 9/30 | 30% | 4/12 | 33% | 5/18 | 28% |
Neuro-muscular | Mild learning problems | 4/35 | 11% | 4/16 | 25% | 0/19 | 0% |
Dilated cerebral ventricles | 4/15 | 27% | 4/11 | 36% | 0/4 | 0% | |
Relative macrocephaly or large head circumference | 7/20 | 35% | 6/12 | 50% | 1/8 | 13% | |
Myopathy | 1/29 | 3% | 0/12 | 0% | 1/17 | 6% | |
Cutaneous | Striae | 7/38 | 18% | 2/18 | 11% | 5/20 | 25% |
Hypertrichosis | 2/32 | 6% | 2/14 | 14% | 0/18 | 0% | |
Delayed wound healing | 3/33 | 9% | 2/14 | 14% | 1/19 | 5% | |
Easy bruising | 4/35 | 11% | 1/15 | 7% | 3/20 | 15% | |
Umbilical hernia | 2/36 | 6% | 1/16 | 6% | 1/20 | 5% |
