Jeune disease (asphyxiating thoracic dystrophy; thoracic-pelvic-phalangeal dystrophy)

General: Autosomal recessive; similar to Ellis-van Creveld syndrome; positive associations of this disorde 525h74f r with cystinuria has been reported in two sisters.

Ocular: Retinal dysfunction; granular pigmentation of the choroid; nystagmus; small white patches in peripheral fundus; retinal degeneration; coloboma of iris; eyes symmetrically involved; retinal aplasia; photophobia; strabismus; pigmentary retinopathy.

Clinical: Long, narrow thorax; short anteriorly clubbed ribs forming a continuous tube with the abdominal cavity; dwarfing skeletal dysplasia; progressive renal failure; liver abnormalities; severe respiratory insufficiency; long, narrow trunk; dystrophic rib cage with respiratory distress; short limbs; polydactyly.

Airede AK. Asphyxiating thoracic dystrophy (Jeune's disease): a case report. East Afr Med J 1994; 71:67-69.

Bard LA, et al. Retinal involvement in thoracic-pelvic-phalangeal dystrophy. Arch Ophthalmol 1978; 96:278-281.

Phillips CI, et al. Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. J Pediatr Ophthalmol Strabismus 1979; 16:279-283.

Wilson DJ, et al. Retinal dystrophy in Jeune's syndrome. Arch Ophthalmol 1987; 105:651-654.