Wrinkly Skin Syndrome 1
General: Autosomal recessive; con 515c21f sanguinity; similar to pseudoxanthoma elasticum and Ehlers-Danlos syndrome; onset from birth.
Ocular: Myopia; chorioretinitis; partial optic atrophy; microphthalmia; blepharophimosis; cataract.
Clinical: Dry skin with many wrinkles, including the dorsal surfaces of hands and feet; many creases of palms and soles; loss of skin elasticity; no abnormal wrinkles or creases about the face; prominent venous pattern over the chest wall; mental retardation; dwarfism; kyphosis; delayed growth; small size at birth; retarded growth and development; microcephaly; craniofacial dysmorphism; skeletal anomalies.
Gazit E, et al. The wrinkly skin syndrome: a new heritable disorder of connective tissue. Clin Genet 1973; 4:186.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Goodman RM, et al. Evolution of palmar skin creases in the Ehlers-Danlos syndrome. Clin Genet 1972; 3:67.
Kreuz FR, Wittwer BH. Del (2q) - cause of the wrinkly skin syndrome? Clin Genet 1993; 43:132-l38.
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