Table 1 Clinical features of children with a molecularly confirmed diagnosis of pEDS and unaffected children.
ID | Gender | Age | Periodontitis | Loss of primary teeth | Generalized lack of attached gingiva | Beighton score (hypermobile joints) | Pretibial plaques | Easy bruising | Other findings |
|---|---|---|---|---|---|---|---|---|---|
Children with a molecularly confirmed diagnosis of pEDS | |||||||||
A1 | Female | 8 years | No | Normal | Yes | 2/9 (wrists) | No | No | Flat feet, piezogenic papules, sensitive skin |
A2 | Female | 9 years | No | Normal | Yes | 2/9 (elbows) | No | Yes | Ruptured eardrum |
A3 | Male | 8 years | No | Normal | Yes | 2/9 (elbows) | No | Yes | None |
A4 | Male | 12 years | No | Normal | Yes | 0/9 | No | No | Recurrent herpes zoster, Crohn disease, recurrent oral ulcera |
B1 | Male | 7 years | No | Normal | Yes | 0/9 | No | No | None |
C1 | Male | 6 years | No | Premature (age 4 years) | Yes | 0/9 | No | No | Fragile skin |
C2 | Male | 9 years | No | Premature (age 3 years) | Yes | 4/9 | No | No | Subluxation of fingers, frequent nose bleeds, fragile skin, autism |
D1 | Male | 6 years | Normal | Yes | 4/9 | No | No | None | |
D2 | Male | 6 years | No | Premature (age 3 years) | Yes | 0/9 | No | Yes | None |
E1 | Male | 8 years | No | Normal | Yes | 0/9 | Yes | Yes | Easy bruising of the cheeks |
F1 | Male | 4 years | No | Normal | Yes | 4/9 | No | Yes | None |
F2 | Female | 13 years | Yes | Normal | Yes | 6/9 | Yes | Yes | Champagne bottle legs |
Unaffected children | |||||||||
A5 | Male | 7 months | n/a | n/a | No | n/a | No | No | None |
A6 | Male | 5 years | No | n/a | No | 2/9 (fingers) | No | No | None |
A7 | Female | 7 years | No | Normal | No | 0/9 | No | No | None |
A8 | Female | 8 years | No | Normal | No | 0/9 | No | No | None |
A9 | Female | 9 years | No | Normal | No | 2/9 (fingers) | No | No | Neurodermitis |
A10 | Female | 10 years | No | Normal | No | 0/9 | No | No | None |
B2 | Male | 7 years | No | Normal | No | 0/9 | No | No | None |
