Debarsy syndrome    347

General: Rare progeroid syndrome associated with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities.

Ocular: Congenital corneal opacification (loss of Bowman layer); cataracts.

Clinical: Short stature, pectus excavatum, skeletal dysplasia with short legs, multiple joint dislocations, especially involving the hands; skin redundancy (as seen in cutis laxa); midface hypoplasia; thin transparent skin with prominent superficial veins; frontal bossing and aged, progeroid facies; early death; hypotonia; mental retardation; brisk deep tendon reflexes.

Aldave AJ, et al. Congenital corneal opacification m DeBarsy syndrome. Arch Ophthalmol 2001; 119:285-288.

Bartsocas CS, et al. De Barsy syndrome. Prog Clin Biol Res 1982; 104:157-l60.

De Barsy AM, Moens E, Dierckx L. Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea: a new syndrome. Helv Paediatr Acta 1968; 3:305-313.