ISSN - 0973-0958

Pediatric Oncall Journal

A case of Asphyxiating Thoracic Dystrophy

S Kaur, KP Kulkarni.
Center for Advanced Pediatrics, IAH, New Delhi.

Ketan P Kulkarni, Department of Pediatrics, PGIMER, Chandigarh, India.
Spot diagnosis

  A case of Asphyxiating Thoracic Dystrophy
What is the diagnosis?

The chest roentgenogram reveals narrow thorax, broad, short and horizontal ribs and highly placed clavicle. The distal ends of ribs were widened and club-shaped and do not extend beyond the anterior axillary line. Diagnosis is Jeune syndrome or asphyxiating thoracic dystrophy. It is a rare autosomal recessive skeletal disorder characterized by a small thorax, short limbs, pelvic abnormalities {hypoplastic iliac wing}, and renal anomalies {1}. It has a varied clinical spectrum of manifestations. The disease is fatal to affected infants in early childhood in 70 percent of cases, mostly due to asphyxia secondary to a small thoracic cage. All have small chests clinically, but the degree of respiratory distress varies from negligible to rapidly lethal {2,3}. Occasional abnormalities include polydactyly, pancreatic fibrosis, situs inversus and deformed teeth {1}. Treatment is mainly supportive although authors have reported utility of lateral thoracic expansion {4}. Because the disease is inherited with an autosomal recessive pattern, there is 25 percent chance of recurrence in the subsequent pregnancy {1}. Genetic counseling and prenatal diagnosis may be offered in selected cases.

1. ASPHYXIATING THORACIC DYSTROPHY 1`-, ATD1 Online Mendelian Inheritance in Man. OMIM {TM}. McKusick-Nathans Institute for Genetic Medicine, John Hopkins University {Baltimore, MD} and National Center for Biotechnology Information, National Library of Medicine {Bethesda, MD}
2. Giorgi PL, Gabrielli O, Bonifazi V, Catassi C, Coppa GV. Mild form of Jeune syndrome in two sisters. Am J Med Genet. 1990, 35: 280-282.
3. Majewski E, Oztürk B, Gillessen-Kaesbach G. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark___? Am J Med Genet. 1996, 63: 74-79
4. Davis JT, Heistein JB, Castile RG, Adler B, Mutabagani KH, Villalobos RE, et al. Lateral thoracic expansion for Jeune`s syndrome: midterm results. Ann Thorac Surg. 2001, 72: 872-877` discussion 878.

E-published: July 2009 Vol 6 Issue 7 Art # 40
Compliance with ethical standards
Funding:  None  
Conflict of Interest:  None
Cite this article as:
Kaur S, Kulkarni K. A case of Asphyxiating Thoracic Dystrophy. Pediatr Oncall J. 2009;6: 55.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0