Figure 1 | Genetics in Medicine

Figure 1

From: A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Figure 1

Clinical phenotype of patients with FKBP14 -kEDS. Consent for publication of patient photos was obtained for each subject. (a,b) P1 from the original publication4 showing wrist-drop of both hands in early infancy (a,b, age 2 and 6 weeks). (c) P3/FIII at age 10 years after surgical correction of the severe thoracolumbar scoliosis. (d) P2/FII at age 8 years after surgical correction of the progressive severe scoliosis. (e) P1/FI at age 8 years with pes planovalgus and rocker bottom feet. (f,g) P7/FV showing micrognathia (f, age 1 year), and hyperextensible skin (g, age 8 years). (h) P10/FVIII at age 12 years with pronounced pes valgus. (i) P12/FX at age 8 years presenting with pectus excavatum. (j–l) P13/FXI at age 5 years presenting with pectus excavatum, umbilical herniae, and wrinkly, redundant skin (j), pronounced criss cross pattern of the soles (k) and cutis marmorata (l). (m–o) P8/FVI at age 6 years (m,o), and 8 years (n) showing scoliosis (m), hyperkeratotic skin eruptions in the pressure areas under the thoracolumbar orthosis (o), and mild flexion contractures of the elbows (n).

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