Genetics of Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Treatment & Management

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Medical Care

  • Medical care in Jeune syndrome is supportive.
  • Mechanical ventilation is urgently required in the most severe cases, in which respiratory distress develops immediately after birth. Less-severe cases gradually progress to respiratory failure as a result of multiple recurrent pulmonary infections.
  • Treat respiratory infections vigorously with antibiotics, endotracheal suctioning, and postural drainage.
  • Nasogastric or gastrostomy feedings may be required.
  • Genetic counseling is indicated. The parents of a child affected with Jeune syndrome are obligatory carriers with a 25% recurrence risk.
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Surgical Care

  • Surgery is indicated only in the most severe cases in which failure to intervene will result in progressive pulmonary damage and eventual death. No data are currently available on long-term follow-up care of patients who have been surgically treated.
  • Chest reconstruction and enlargement of the thoracic cage by sternotomy and fixation with bone grafts or a methylmethacrylate prosthesis plate provides patients with the time needed for thoracic cage growth. Bone grafting can completely fill midsternal defect, thus preventing lung herniation, and supplies equal support along the sternal wound edges, avoiding localized high-pressure areas. No ribs or iliac crest grafts have to be harvested from the patient. A methylmethacrylate prosthesis can be made before surgery, thus saving considerable anesthesia time. The prosthesis supplies support along the entire length of the sternal edges to prevent herniation of the heart and lungs. The material is inert and the prosthesis can be replaced later if a larger strut is needed.
  • A second-stage procedure is needed to provide a better and more natural environment for further continuous expansion of the chest.
  • A procedure of lateral thoracic expansion was recently described in Jeune syndrome. The chest wall is enlarged by dividing the ribs and underlying tissue in a staggered fashion so that either rib or periosteum covers the lung. New bone formation has been demonstrated, and viable enlargement has been obtained. This procedure has been found to be safe and effective in selected patients older than one year.
  • A vertical expandable prosthetic titanium rib is a new and safe tool used to treat children with thoracic insufficiency syndrome. It may decrease carbon dioxide retention in some patients and may be most beneficial in younger children.
  • Dialysis and renal transplantation are indicated for renal failure. Cadaver renal transplantation was successful in a 10-year-old boy with Jeune syndrome type 2.
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Consultations

  • Clinical geneticist
  • Radiologist
  • Anesthesiologist
  • Pediatric surgeon
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Diet

  • No special diet is required.
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Activity

  • No restriction of activities is required for survivors of this condition.
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Proceed to Medication
 
 
Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

James Bowman, MD  Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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An infant with Jeune syndrome. Note the narrow chest and shortened upper extremities.
A child with Jeune syndrome. Note long narrow thorax with respiratory difficulty.
Note cystic renal dysplasia on the left kidney and renal hypoplasia on the right kidney.
Note the narrow chest and shortened ribs.
Note the shortened upper extremity with acromelic shortening.
 
 
 
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