De Barsy syndrome. Progeroid syndrome of De Barsy. Cutis laxa, corneal clouding and mental retardation.
Incidence
Autosomal recessive genetic disorder. Some 27 cases had been reported in the literature. Many are sporadic.
Clinical Characteristics
De Barsy syndrome is a rare, autosomal recessive genetic disorder, the main characteristics of which are a prematurely aged-looking face (progeria), cloudy corneas, short stature, and mental retardation. The condition is expressed in variable presentations involving complicated patterns of ocular, facial, skeletal, dermatologic and neurological abnormalities. Most patients have cutis laxa with defective development of elastic fibers in the skin. The corneas are cloudy due to degeneration in Bowman membrane. Psychomotor development is retarded and are generally hypotonic. Often have congenital bilateral athetosis. May be obvious during the neonatal period. Superficial blood vessels are often unusually evident because of a translucent quality of the skin. A wizened face is a striking feature. The corneas are cloudy, with arcus senilis bilaterally and a polar cataract may be present. The thumbs and great toes as well as both hips may be dislocated. Elastic fibers in the skin were frayed and reduced in number and density.
Precipitants
None
Provocation Tests
None.
Diagnostic Procedures
It is a clinical diagnosis.