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. 2017 Jun 15;20(1):42–54. doi: 10.1038/gim.2017.70

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.

a

Including follow-up in three patients.