Table 2. Features associated with FKBP14 mutations in our two patient cohorts (frequency reported as percentage).
Cohorts | Present study | Baumann et al.4 a | Total | Percentage |
---|---|---|---|---|
Total number of patients | 17 | 6 | 23 | |
Skin | ||||
Hyperextensible | 12/17 | 5/6 | 17/23 | 73 |
Soft texture | 16/16 | 6/6 | 23/23 | 100 |
Criss cross palms/soles | 5/17 | NR | 5/17 | 29 |
Follicular hyperkeratosis | 6/16 | 4/6 | 10/23 | 43 |
Easy bruising | 7/16 | 3/6 | 10/23 | 43 |
Hypertrophic scars | 3/17 | 1/6 | 4/23 | 17 |
Atrophic scars | 2/17 | 1/6 | 3/23 | 13 |
Joints and skeleton | ||||
Hypermobile large joints | 15/17 | 6/6 | 21/23 | 91 |
Hypermobile small joints | 17/17 | 6/6 | 23/23 | 100 |
Congenital hip dislocation | 4/17 | NR | 4/17 | 23 |
Recurrent dislocations | 4/17 | 1/6 | 5/23 | 21 |
Joint contractures | 7/17 | 0/6 | 7/23 | 30 |
Progressive kyphoscoliosis | 14/17 | 4/6 | 18/23 | 78 |
Foot deformities | 17/17 | 6/6 | 23/23 | 100 |
Fractures | 2/17 | 1/6 | 3/23 | 13 |
Neuromuscular | ||||
Muscle hypotonia at birth | 17/17 | 6/6 | 23/23 | 100 |
Poor head control in infancy | 17/17 | 6/6 | 23/23 | 100 |
Weakness improving | 16/16 | 6/6 | 22/22 | 100 |
Delayed motor development | 17/17 | 6/6 | 23/23 | 100 |
Muscular atrophy | 8/16 | 6/6 | 14/22 | 63 |
Cardiovascular | ||||
Cardiac valve abnormalities | 6/16 | 3/6 | 9/22 | 40 |
Septum defects | 3/16 | 0/6 | 3/22 | 13 |
Vascular abnormalities | 4/14 | 2/6 | 6/20 | 30 |
Eyes and ears | ||||
Bluish sclerae | 7/17 | 1/6 | 8/23 | 34 |
Refraction anomaly | 9/14 | 3/6 | 12/20 | 60 |
Hearing impairment | 11/17 | 6/6 | 17/23 | 73 |
Miscellaneous | ||||
Cleft palate, bifid uvula | 5/17 | 2/6 | 7/23 | 30 |
Micrognathia, retrognathia | 6/17 | 2/6 | 8/23 | 34 |
Herniae | 7/17 | 4/6 | 11/23 | 47 |
Bladder diverticulum | 1/15 | 2/4 | 3/19 | 15 |
Speech or language delay | 7/17 | 0/3 | 7/20 | 35 |
Learning difficulties/intellectual disability | 3/17 | 1/6 | 4/23 | 17 |
NR, not recorded.
Including follow-up in three patients.