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Dyssegmental dysplasia

Report of two cases with a review of the literature

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Abstract

Two cases of dyssegmental dysplasia, a rare lethal skeletal dysplasia in the newborn, are reported. Two different forms of dyssegmental dysplasia can be distinguished — the lethal Silverman type and the less severe Rolland-Desbuquois type. In this report, both cases are of the Silverman type. Histopathology of chondro-osseous tissue confirms the similarity in pathologic findings to Kniest dysplasia.

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References

  1. Bueno M, Argemi J, Maroteaux P (1984) Dysplasie dyssegmentaire. A propos de 2 cas familiaux d'evolution letale. Arch Fr Pediatr 41:269

    Google Scholar 

  2. Dinno ND, Shearer L, Weisskopf B (1976) Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome?. Eur J Pediatr 123:39

    Google Scholar 

  3. Farriaux JP, Remy J, Harris GBC, Spranger J, Maroteaux P (1977) Severe neonatal dwarfism resembling the Kniest and Rolland types of chondrodysplasia. Acta Pediatr Belg 30:77

    Google Scholar 

  4. Goodlin RC, Lowe EW (1974) Unexplained hydramnios associated with thanatophoric dwarf. Am J Obstet Gynecol 118:873

    Google Scholar 

  5. Gorlin RJ, Langer LO Jr (1978) Dyssegmental dwarfism: Lethal anisospondylic camptomicromelic dwarfism. Birth Defects 14:193

    Google Scholar 

  6. Gruhn JG, Gorlin RJ, Langer LO (1978) Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism. Am J Dis Child 132:382

    Google Scholar 

  7. Handmaker SD, Campbell JA, Robinson LD, Chinwach O, Gorlin RJ (1977) Dyssegmental dwarfism: A new syndrome of lethal dwarfism. Birth Defects VIII:79

    Google Scholar 

  8. Kozlowski K, Barylak A, Kobielowa Z (1977) Kniest syndrome. Australas Radiol 21:60

    Google Scholar 

  9. Langer LO, Gonzales-Ramos M, Chen H, Espiritu CE, Courtney NW, Opitz JM (1976) A severe infantile micromelic chondrodysplasia which resembles Kniest disease. Eur J Pediatr 123:29

    Google Scholar 

  10. Maroteaux P (1982) Maladies osseuses de l'enfant. Flammarion (ed) Medicine-Sciences, Paris

    Google Scholar 

  11. Miething R, Stöver B, Tuengerthal S, Winterling D, Svejcar J (1981) Dyssegmentaler Zwergwuchs. Bericht über zwei Fälle. Radiologe 21:190

    Google Scholar 

  12. Rolland JC, Laugier J, Grenier B, Desbuquois G (1972) Nanisme chondrodystrophique et division palatine chez un nouveau-né. Ann Pediatr (Paris) 19:139

    Google Scholar 

  13. Silverman FN (1969) Forms of dysostotic dwarfism of uncertain classification. Ann Radiol (Paris) 19:139

    Google Scholar 

  14. Weissenbacher G, Zweymüller E (1964) Gleichzeitiges Vorkimmen eines Syndromes von Pierre Robin und einer fetalen Chondrodysplasie. Monatsschr Kinderheilk 112:315

    Google Scholar 

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Fasanelli, S., Kozlowski, K., Reiter, S. et al. Dyssegmental dysplasia. Skeletal Radiol 14, 173–177 (1985). https://doi.org/10.1007/BF00355557

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