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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Figure 2

Clinical aspects of affected patients. Facial characteristics include large ears, a long, coarse face, blepharochalasis, ptosis, a beaked nose and a large philtrum. Note the variability of skin phenotype at different ages. (A-C) Typical facial characteristics, slightly hyperextensible skin, mild rimpling and sagging of the abdominal skin in patient F3:I-2. (D-F) Typical facial characteristics, slightly hyperextensible skin, and small redundant skin folds of the axillar folds in patient F3:II-1. (G-I) Typical facial characteristics, manifest loose, redundant and sagging skin folds of the abdominal skin and slightly hyperextensible skin of the limbs in patient F3:II-2. (J) Patient S1:II-2 at the age of 1 year presenting with typical facial characteristics and generalized, loose, redundant skin folds. (K-L) Facial characteristics and skin hyperextensibility in patient F6:II-1.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172