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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Figure 2

Clinical findings in two patients with cEDS. A) Patient AN_002502, with ocular involvement and a, b) dysmorphic features, including epicanthus, blue sclerae, hypertelorism, micrognathia; c-d) skin hyperextensibility; e) easy bruising and atrophic and hypertrophic scars on the knees and pretibial area; f, g) hand and foot deformities, hallux valgus. B) Patient AN_002534 with a severe phenotype; a, b) atrophic and hypertrophic scars on the forehead and the cheeks at the age of 32 years; c) marked skin hyperextensibility on the forearm; d) redundant and sagging skin on the ankles and hallux valgus; e) scars (all types) on the knees and inferior limbs; f) hypermobility of the forefinger; g) outcomes of severe congenital kyphoscoliosis treated with surgery, bilateral valgus knee, scars on the elbows, the forearms, redundant and sagging skin on the ankles, and flat feet.

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