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An early breathing disorder in a newborn: Jeune syndrome

Year 2016, Volume: 3 Issue: 2, 103 - 6, 15.02.2016

Abstract

 

Introduction: Jeune syndrome affects an estimated 1 in 100.000 to 130.000 people. The syndrome causes breathing disorders and upper or lower respiratory tract infections because of thoracic cage which is smaller and narrower than usual.

Case: Here we report a male newborn presented with narrow thoracic cage and short limbs. Radiological evaluation with PA chest graphy showed abnormal short ribs. 3D CT showed decreased antero-posterior diameter of chest cavity, horizontally located round ended ribs, and shallow acetabular cavity. Abdomen ultrasonography detected bilateral small kidneys accompanied by left pelvi-caliectasis and milimetric intraparanchimal liver calcification. Following recurrent lower respiratory tract infections, the baby expired within fourth month. The final diagnosis was Jeune syndrome.

Conclusion: Jeune syndrome is a rare seen congenital anomaly. Radiological evaluation is essential for the diagnosis. Characteristic findings include many skeletal abnormalities on costochondral junctions, clavicles, iliac bones, long bones of the extremities, and phalanges of both hands and feet. About 60% to 70% of children with this condition die from respiratory failure as babies or young children which are the problem. Early diagnosis to decrease mortality is highly dependent on the early diagnosis of this syndrome.

References

  • Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caractere familial. Arch Fr Pediatr 1955; 12: 886-91.
  • Vries J, Yntema JL, Van Die CE, Crama N, Cornelissen AM, Hamel BCJ. Jeune syndrome: description of 13 cases and proposal for follow-up protocol. Eur J Pediatr 2009; May 10. [Epub ahead of print].
  • Nagai T, Nishimura G, Kato R, Hasegawa T, Oashi H, Fukushima Y. Del [12] [p11.21p12.2] associated with asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. AM J Med Genet 1995; 55: 16-8.
  • Poggiani C, Gasparoni MC, Mangili G, Colombo A. Asphyxiating thoracic dysplasia in a lethal form:radiological and sonographic findings. Minerva Pediatr 2000; 52: 63-7.
  • Barnes ND, Hull D, Simons JS [1969] Thoracic dystrophy. Arch Dis Child 44:11–17. doi:10.1136/adc.44.233.11
  • Cortina H, Beltran J, Olague R et al [1979] The wide spectrum of the asphyxiating thoracic dysplasia. Pediatr Radiol 8:93–99.
  • Friedman JM, Kaplan HG, Hall JG [1975] The Jeune syndrome [asphyxiating thoracic dystrophy] in an adult. Am J Med 59:857–862.
  • Hennekam RCM, Beemer FM, Gerards LJ, Cats B [1983] Thoracic pelvic phalangeal dystrophy [Jeune syndroom]. Tijdschr Kindergeneeskd 51:95–100
  • Herdman RC, Langer LO [1968] The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child 116:192–201
  • Hudgins L, Rosengren S, Treem W, Hyams J [1992] Early cirrhosis is survivors with Jeune thoracic dystrophy. J Pediatr 120:754–756.
  • Kozlowski K, Masel j. Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. Pediatr Radiol 1976; 5: 30-3.
  • Williams AJ, Vawter G, Reid LM. Lung structure in asphyxiating thoracic dystrophy. Arch Pathol Lab Med 1984; 108:658-61.
  • Verma A, Gurudatta HS. Jeune syndrome. Indian Pediatr 2004; 41: 954-5.
  • Donaldson MDC, Warner AA, Trompeter R, Haycock GB, Chantler C. Familial juvenile nephronophtisis, Jeune’s syndrome, and associated disorders. Arch Dis Child 1985; 60: 426-34
  • Amirou M, Bourdat-Michel G, Pinel N, Huet G, GaultierJ, Cochat P. Successful renal transplantation in Jeune’s syndrome type 2. Pediatr Nephrol 1988; 12: 293-4.
  • Özçay F, Derbent M, Demirhan B, Tokel K, Saatçi U. A family with Jeune-sydrome. Pediar Nephrol 2001; 16[8]:623-6.
  • Labrune P, Fabre M, Troche P, et al. Jeune sydrome and liver disease: report of the three cases treated with ursodeoxycholic acid. Am J med Gene 1999; 87: 324-8.
  • Ellis RW, van Creveld SA. A sydrome chracterised by ectodermal dysplasia, polydactyly, chondroplasia ad congenital morbus cordis; report of three cases. Arch Dis Child 1940; 15: 65-84.
  • Burn J, Hall C, Marsden D, Mathew DJ. Autosomal domiant thoracolaryngopelvic dysplasia: Barnes syndrome. J Med Genet 1986; 23: 345-9.

An early breathing disorder in a newborn: Jeune syndrome

Year 2016, Volume: 3 Issue: 2, 103 - 6, 15.02.2016

Abstract

References

  • Jeune M, Beraud C, Carron R. Dystrophie thoracique asphyxiante de caractere familial. Arch Fr Pediatr 1955; 12: 886-91.
  • Vries J, Yntema JL, Van Die CE, Crama N, Cornelissen AM, Hamel BCJ. Jeune syndrome: description of 13 cases and proposal for follow-up protocol. Eur J Pediatr 2009; May 10. [Epub ahead of print].
  • Nagai T, Nishimura G, Kato R, Hasegawa T, Oashi H, Fukushima Y. Del [12] [p11.21p12.2] associated with asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. AM J Med Genet 1995; 55: 16-8.
  • Poggiani C, Gasparoni MC, Mangili G, Colombo A. Asphyxiating thoracic dysplasia in a lethal form:radiological and sonographic findings. Minerva Pediatr 2000; 52: 63-7.
  • Barnes ND, Hull D, Simons JS [1969] Thoracic dystrophy. Arch Dis Child 44:11–17. doi:10.1136/adc.44.233.11
  • Cortina H, Beltran J, Olague R et al [1979] The wide spectrum of the asphyxiating thoracic dysplasia. Pediatr Radiol 8:93–99.
  • Friedman JM, Kaplan HG, Hall JG [1975] The Jeune syndrome [asphyxiating thoracic dystrophy] in an adult. Am J Med 59:857–862.
  • Hennekam RCM, Beemer FM, Gerards LJ, Cats B [1983] Thoracic pelvic phalangeal dystrophy [Jeune syndroom]. Tijdschr Kindergeneeskd 51:95–100
  • Herdman RC, Langer LO [1968] The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child 116:192–201
  • Hudgins L, Rosengren S, Treem W, Hyams J [1992] Early cirrhosis is survivors with Jeune thoracic dystrophy. J Pediatr 120:754–756.
  • Kozlowski K, Masel j. Asphyxiating thoracic dystrophy without respiratory disease: report of two cases of the latent form. Pediatr Radiol 1976; 5: 30-3.
  • Williams AJ, Vawter G, Reid LM. Lung structure in asphyxiating thoracic dystrophy. Arch Pathol Lab Med 1984; 108:658-61.
  • Verma A, Gurudatta HS. Jeune syndrome. Indian Pediatr 2004; 41: 954-5.
  • Donaldson MDC, Warner AA, Trompeter R, Haycock GB, Chantler C. Familial juvenile nephronophtisis, Jeune’s syndrome, and associated disorders. Arch Dis Child 1985; 60: 426-34
  • Amirou M, Bourdat-Michel G, Pinel N, Huet G, GaultierJ, Cochat P. Successful renal transplantation in Jeune’s syndrome type 2. Pediatr Nephrol 1988; 12: 293-4.
  • Özçay F, Derbent M, Demirhan B, Tokel K, Saatçi U. A family with Jeune-sydrome. Pediar Nephrol 2001; 16[8]:623-6.
  • Labrune P, Fabre M, Troche P, et al. Jeune sydrome and liver disease: report of the three cases treated with ursodeoxycholic acid. Am J med Gene 1999; 87: 324-8.
  • Ellis RW, van Creveld SA. A sydrome chracterised by ectodermal dysplasia, polydactyly, chondroplasia ad congenital morbus cordis; report of three cases. Arch Dis Child 1940; 15: 65-84.
  • Burn J, Hall C, Marsden D, Mathew DJ. Autosomal domiant thoracolaryngopelvic dysplasia: Barnes syndrome. J Med Genet 1986; 23: 345-9.
There are 19 citations in total.

Details

Primary Language English
Journal Section Case Reports
Authors

Fatma Narter

Ozlem Turkoglu

Hakan Sarbay This is me

Muferret Erguven This is me

Publication Date February 15, 2016
Published in Issue Year 2016 Volume: 3 Issue: 2

Cite

APA Narter, F., Turkoglu, O., Sarbay, H., Erguven, M. (2016). An early breathing disorder in a newborn: Jeune syndrome. Medical Science and Discovery, 3(2), 103-6. https://doi.org/10.17546/msd.89363
AMA Narter F, Turkoglu O, Sarbay H, Erguven M. An early breathing disorder in a newborn: Jeune syndrome. Med Sci Discov. February 2016;3(2):103-6. doi:10.17546/msd.89363
Chicago Narter, Fatma, Ozlem Turkoglu, Hakan Sarbay, and Muferret Erguven. “An Early Breathing Disorder in a Newborn: Jeune Syndrome”. Medical Science and Discovery 3, no. 2 (February 2016): 103-6. https://doi.org/10.17546/msd.89363.
EndNote Narter F, Turkoglu O, Sarbay H, Erguven M (February 1, 2016) An early breathing disorder in a newborn: Jeune syndrome. Medical Science and Discovery 3 2 103–6.
IEEE F. Narter, O. Turkoglu, H. Sarbay, and M. Erguven, “An early breathing disorder in a newborn: Jeune syndrome”, Med Sci Discov, vol. 3, no. 2, pp. 103–6, 2016, doi: 10.17546/msd.89363.
ISNAD Narter, Fatma et al. “An Early Breathing Disorder in a Newborn: Jeune Syndrome”. Medical Science and Discovery 3/2 (February 2016), 103-6. https://doi.org/10.17546/msd.89363.
JAMA Narter F, Turkoglu O, Sarbay H, Erguven M. An early breathing disorder in a newborn: Jeune syndrome. Med Sci Discov. 2016;3:103–6.
MLA Narter, Fatma et al. “An Early Breathing Disorder in a Newborn: Jeune Syndrome”. Medical Science and Discovery, vol. 3, no. 2, 2016, pp. 103-6, doi:10.17546/msd.89363.
Vancouver Narter F, Turkoglu O, Sarbay H, Erguven M. An early breathing disorder in a newborn: Jeune syndrome. Med Sci Discov. 2016;3(2):103-6.