[Congenital hereditary corneal dystrophy associated with various extraoculary anomalies].
Two subjects (brother and sister), children of consanguineous parents, showed a typical congenital corneal dystrophy associated with mental retardation and a bilateral malformation of the little finger. One of them, a boy of 10, was fat and showed a hearing loss for high tones. His corneal opacity diminished during 7 years observation. Seeing that the affected tissues were of mesenchymal origin, the authors conclude that the syndrome was mesodermal.
D002648:Child; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000150:complications* / Q000151:congenital / Q000235:genetics; D003318:Corneal Opacity / Q000150:complications / Q000151:congenital / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006311:Hearing Disorders / Q000150:complications / Q000151:congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree
Dystrophie congénitale héréditaire de la cornée associée à des anomalies extraoculaires diverses