Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1985 Apr;22(2):112–118. doi: 10.1136/jmg.22.2.112

Necropsy findings in neonatal asphyxiating thoracic dystrophy.

S B Turkel, E J Diehl, J A Richmond
PMCID: PMC1049394  PMID: 3989824

Abstract

Asphyxiating thoracic dystrophy is an autosomal recessive disorder characterised by an abnormally small thorax, variable shortening of the extremities, and pelvic anomalies. Renal and pancreatic symptoms are found in longer survivors, although most cases die in infancy of respiratory failure. Seven neonatal cases were studied at necropsy. These cases ranged in gestational age from 32 to 40 weeks. One was stillborn and the other six survived from 1 hour to 10 days. Two were sibs born to consanguineous parents. Dwarfing was not pronounced and the extremities were shortened in only one infant who also had polydactyly. All seven showed visceral changes in addition to abnormalities of bone. Endochondral ossification was irregular in sections of femur, vertebra, and rib. Pulmonary hypoplasia was associated with the small thorax typical of this disorder. Periportal fibrosis and bile duct proliferation were seen in sections of liver, and in one case cirrhosis was found. Pancreatic fibrosis was variable. These necropsy findings correlate with later clinical manifestations of the disease and emphasise the multisystem nature of this disorder.

Full text

PDF
112

Images in this article

114Image
on p.114
114Image
on p.114
114Image
on p.114
115Image
on p.115
115Image
on p.115

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barnes N. D., Hull D., Symons J. S. Thoracic dystrophy. Arch Dis Child. 1969 Feb;44(233):11–17. doi: 10.1136/adc.44.233.11. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bernstein J., Brough A. J., McAdams A. J. The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. Birth Defects Orig Artic Ser. 1974;10(4):35–43. [PubMed] [Google Scholar]
  3. Burkle F. M., Jr, Bravo A. J. Asphyxiating thoracic dystrophy. Malformation of the newborn. Clin Pediatr (Phila) 1969 Mar;8(3):165–170. doi: 10.1177/000992286900800309. [DOI] [PubMed] [Google Scholar]
  4. CHAPTAL J., JEAN R., PAGES A., DOSSA D., LAMARCHE, DUMAS A. CHONDRODYSTROPHIE 'A PR'EDOMINANCE THORACIQUE: DEUX OBSERVATIONS. Montp Med. 1964 May;65:287–295. [PubMed] [Google Scholar]
  5. Carbonini M., Cicchetti F., Ferruti M., Longhi A. Distrofia toracica asfissiante (sindrome di Jeune). Aspetti clinici e medico-legali. Minerva Ginecol. 1969 Sep 30;21(18):1223–1226. [PubMed] [Google Scholar]
  6. Centa A., Rasore Quartino A. Su di un nuovo caso di distrofia toracica asfissiante (malattia di Jeune). Considerazioni cliniche, radiologiche e genetiche. Minerva Pediatr. 1967 Oct 27;19(43):1924–1928. [PubMed] [Google Scholar]
  7. Chaminade F., Stanescu V., Stanescu R., Maroteaux P. Link-proteins and non-collagenous proteins from normal and chondrodysplastic cartilages. Eur J Pediatr. 1979 Aug;131(4):237–245. doi: 10.1007/BF00444344. [DOI] [PubMed] [Google Scholar]
  8. Finegold M. J., Katzew H., Genieser N. B., Becker M. H. Lung structure in thoracic dystrophy. Am J Dis Child. 1971 Aug;122(2):153–159. doi: 10.1001/archpedi.1971.02110020087013. [DOI] [PubMed] [Google Scholar]
  9. Friedman J. M., Kaplan H. G., Hall J. G. The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. Am J Med. 1975 Dec;59(6):857–862. doi: 10.1016/0002-9343(75)90472-6. [DOI] [PubMed] [Google Scholar]
  10. Gordeev V. V., Anan'eva A. P., Frolova M. A. Sindrom Jeune. Pediatriia. 1980 Jul;(7):63–63. [PubMed] [Google Scholar]
  11. Gruskin A. B., Baluarte H. J., Cote M. L., Elfenbein I. B. The renal disease of thoracic asphyxiant dystrophy. Birth Defects Orig Artic Ser. 1974;10(4):44–50. [PubMed] [Google Scholar]
  12. Hanissian A. S., Riggs W. W., Jr, Thomas D. A. Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome. J Pediatr. 1967 Dec;71(6):855–864. doi: 10.1016/s0022-3476(67)80011-8. [DOI] [PubMed] [Google Scholar]
  13. Herdman R. C., Langer L. O. The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child. 1968 Aug;116(2):192–201. doi: 10.1001/archpedi.1968.02100020194014. [DOI] [PubMed] [Google Scholar]
  14. JEUNE M., BERAUD C., CARRON R. Dystrophie thoracique asphyxiante de caractère familial. Arch Fr Pediatr. 1955;12(8):886–891. [PubMed] [Google Scholar]
  15. JEUNE M., CARRON R., BERAUD C., LOAEC Y. Polychondrodystrophie avec blocage thoracique d'évolution fatale. Pediatrie. 1954;9(4):390–392. [PubMed] [Google Scholar]
  16. Karjoo M., Koop C. E., Cornfeld D., Holtzapple P. G. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child. 1973 Feb;48(2):143–146. doi: 10.1136/adc.48.2.143. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Kaufmann H. J. "New" skeletal dysplasias in the newborn: new X-ray findings. Birth Defects Orig Artic Ser. 1974;10(12):1–9. [PubMed] [Google Scholar]
  18. Kaufmann H. J., Kirkpatrick J. A., Jr Jeune thoracic dysplasia--a spectrum of disorders? Birth Defects Orig Artic Ser. 1974;10(9):101–116. [PubMed] [Google Scholar]
  19. Kohler E., Babbitt D. P. Dystrophic thoraces and infantile asphyxia. Radiology. 1970 Jan;94(1):55–62. doi: 10.1148/10.1148/94.1.55. [DOI] [PubMed] [Google Scholar]
  20. Kozlowski K., Masel J. Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. Pediatr Radiol. 1976 Oct 26;5(1):30–33. doi: 10.1007/BF00988659. [DOI] [PubMed] [Google Scholar]
  21. Kozlowski K., Masel J., Morris L., Kunze D. Neonatal death dwarfism. (A further report). Rofo. 1978 Nov;129(5):626–633. doi: 10.1055/s-0029-1231172. [DOI] [PubMed] [Google Scholar]
  22. Landing B. H., Wells T. R., Claireaux A. E. Morphometric analysis of liver lesions in cystic diseases of childhood. Hum Pathol. 1980 Sep;11(5 Suppl):549–560. [PubMed] [Google Scholar]
  23. Midulla M., Moschini L., Paolone G., Marino P. Distrofia toracica di Jeune. Minerva Pediatr. 1971 Jan 7;23(1):19–29. [PubMed] [Google Scholar]
  24. NEIMANN N., MANXIAUX M., RAUBER G., PERNOT C., BRETAGNE-DE-KERSAUSON M. C. [Asphyxiating thoracic dystrophy in the infant]. Pediatrie. 1963;18:387–397. [PubMed] [Google Scholar]
  25. Penido R., Carrel R., Chialastri A. J. Asphyxiating thoracic dystrophy in a teenager. J Pedod. 1978 Summer;2(4):338–343. [PubMed] [Google Scholar]
  26. Phillips C. I., Stokoe N. L., Bartholomew R. S. Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. J Pediatr Ophthalmol Strabismus. 1979 Sep-Oct;16(5):279–283. doi: 10.3928/0191-3913-19790901-03. [DOI] [PubMed] [Google Scholar]
  27. Phillips S. J., Magsamen B. F., Punnett H. H., Kistenmacher M. L., Campo R. D. Fine structure of skeletal dysplasia as seen in pseudoachondroplastic spondyloepiphyseal dysplasia and asphyxiating thoracic dystrophy. Birth Defects Orig Artic Ser. 1974;10(12):314–326. [PubMed] [Google Scholar]
  28. Pirnar T., Neuhauser E. B. Asphyxiating thoracic dystrophy of the newborn. Am J Roentgenol Radium Ther Nucl Med. 1966 Oct;98(2):358–364. doi: 10.2214/ajr.98.2.358. [DOI] [PubMed] [Google Scholar]
  29. Razzi A., Rosso C., Durand P. Contributo anatomopatologico alla distrofia toracica asfissiante del lattante (malattia di Jeune) e considerazioni sull'utilità terapeutica dell'intervento chirurgico sulle coste. Minerva Pediatr. 1965 Nov 24;17(36):1823–1827. [PubMed] [Google Scholar]
  30. Richardson M. M., Beaudet A. L., Wagner M. L., Malini S., Rosenberg H. S., Lucci J. A., Jr Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism. J Pediatr. 1977 Sep;91(3):467–471. doi: 10.1016/s0022-3476(77)81327-9. [DOI] [PubMed] [Google Scholar]
  31. Robins D. G., French T. A., Chakera T. M. Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. Arch Dis Child. 1976 Oct;51(10):799–801. doi: 10.1136/adc.51.10.799. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Sacrez R., Levy J. M., Halb A., Korn R., Stoebner, Klein F., Beauvais P. La dystrophie thoracique asphyxiante. Pediatrie. 1966 Sep;21(6):631–644. [PubMed] [Google Scholar]
  33. Shah K. J. Renal lesion in Jeune's syndrome. Br J Radiol. 1980 May;53(629):432–436. doi: 10.1259/0007-1285-53-629-432. [DOI] [PubMed] [Google Scholar]
  34. Shokeir M. H., Houston C. S., Awen C. F. Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression. J Med Genet. 1971 Mar;8(1):107–112. doi: 10.1136/jmg.8.1.107. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Slomic A., Bouliane R. Maturation osseuse dans la dysplasie thoracique asphyxiante et le nanisme diastrophique à la période néo-natale. J Radiol Electrol Med Nucl. 1977 Jan;58(1):17–20. [PubMed] [Google Scholar]
  36. Spranger J., Langer L. O., Weller M. H., Herrmann J. Short rib-polydactyly syndromes and related conditions. Birth Defects Orig Artic Ser. 1974;10(9):117–123. [PubMed] [Google Scholar]
  37. Szabó L., Takács I. Jeune-syndroma (thoraco-pelvo-phalangealis dystrophia, asphyxiating thoracic dystrophy). Orv Hetil. 1980 Nov 2;121(44):2699–2704. [PubMed] [Google Scholar]
  38. Tahernia A. C., Stamps P. "Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary. Clin Pediatr (Phila) 1977 Oct;16(10):903–908. doi: 10.1177/000992287701601006. [DOI] [PubMed] [Google Scholar]
  39. Wendler H., Rossipal E. Die familiäre asphyxierende Thoraxdystrophie (Morbus Jeune) Arch Kinderheilkd. 1969 Jul;179(2):171–182. [PubMed] [Google Scholar]
  40. Yang S. S., Heidelberger K. P., Brough A. J., Corbett D. P., Bernstein J. Lethal short-limbed chondrodysplasia in early infancy. Perspect Pediatr Pathol. 1976;3:1–40. [PubMed] [Google Scholar]
  41. Zizka J., Rehulová E., Jüttnerová V., Balícek P. Asfyktizující torakální dystrofie. Cesk Pediatr. 1979 Feb;34(2):98–99. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES