Figure 3.

Clinical photographs of a patient with EDS caused by a carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency. Craniofacial features at the age of 23 days (A); three years (B); and 16 years (C) indicate hypertelorism; short and downslanting palpebral fissures, blue sclerae, a short nose with a hypoplastic columella, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia at birth to early childhood. A slender and asymmetrical facial shape with a protruding jaw from adolescence is also observed. Congenital contracture of the fingers include adducted thumbs at 23 days (D,E); slender and cylindrical fingers and wrinkling palmar creases at 16 years (F); talipes equinovarus at birth (G); progressive foot deformities with talipes planus and valgus at 16 years (H); large subcutaneous hemtomas in a patient at the age of six years (I) and in another patient at the age of 16 years (J); kyphoscoliosis in a patient at the age of 16 years (J, K) (Figure (I) was reproduced from [44]; Figures (A,B,D,E,G,J,K) were reproduced from [45], with permission from Wiley-Liss, Inc., Hoboken, NJ, USA).