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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Figure 1

Clinical features of the probands. A: P1 at the age of 7 yrs. Note hypertelorism, several bruises on forehead and shins, mild pectus excavatum and slightly bowed legs. B-D: P2. Note the mildly blue sclerae, prominent forehead, mildly hypertrophic scarring and skin hyperextensibility. E&L: P3 at the age of 37 yrs. Note the short trunk and mildly atrophic scars on the knees. F-H: P5 at the age of 10 yrs: skin hyperextensibility, generalized joint hyperlaxity and mildly hypertrophic cicatrisation. I-K: P7 at the age of 7 yrs. She displays blue sclerae and translucent skin. Note the multiple ecchymoses and hematomas on the legs.

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