Table 1 Major and minor criteria of spEDS according to the 2017 EDS nosology [1, 2] and comparison to LRS [9]
From: Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
Present patient | spEDS-B4GALT7 (%)a | spEDS-B3GALT6 (%) | spEDS-SLC39A13 (%) | Total spEDS (%) | LRS (%) | |
|---|---|---|---|---|---|---|
MAJOR CRITERIA | ||||||
Short stature | + | 8/8 (100) | 26/36 (72.2) | 7/8 (87.5) | 41/52 (78.8) | 19/19 (100) |
Muscle hypotonia | + | 8/8 (100) | 16/36 (44.4) | 6/8 (75.0) | 30/52 (57.6) | na |
Bowing of limbs | – | 5/8 (62.5) | 3/36 (8.3) | na | 8/44 (18.1) | – |
MINOR CRITERIA | ||||||
Hyperextensible, soft, doughy, and thin skin | + | 7/8 (87.5) | 19/36 (52.7) | 6/8 (75.0) | 32/52 (61.5) | 21/22 (95.4) |
Pes planus/equinovarus/valgus | + | 6/8 (75.0) | 21/36 (58.3) | 6/8 (75.0) | 33/52 (63.4) | na |
Delayed motor development | + | 7/8 (87.5) | 7/36 (19.4) | – | 14/52 (26.9) | na |
Osteopenia | + | 5/8 (62.5) | 12/36 (33.3) | 3/8 (37.5) | 20/52 (38.4) | – |
Delayed cognitive development | – | 5/8 (62.5) | 11/36 (30.5) | – | 16/52 (30.7) | 12/22 (54.5) |