Genetics of Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Workup

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

Laboratory Studies

The following studies are recommended in Jeune syndrome:

  • Urinalysis
    • Hematuria
    • Proteinuria
    • Defective urine concentrating capacity
  • ABG: Hypoxia and hypercarbia in room air reflect severe restrictive lung disease.
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Imaging Studies

  • Newborn and infant radiography
    • Small and bell-shaped thorax with reduced transverse and anterior-posterior diameter
    • Short and horizontally oriented ribs with irregular costochondral junctions and bulbous and irregular anterior ends
    • Short squared iliac wings
    • Trident appearance of acetabular margin
    • Short limbs relative to trunk
    • Variable limb shortening
    • Short phalanges, metacarpals, or metatarsals with or without polydactyly
    • Premature ossification of the capital femoral epiphyses
  • Childhood radiology
    • Relatively large thorax with growth of ribs
    • Short ilium with normal flaring of iliac wings
    • Striking cone-shaped epiphyses and early fusion between the epiphyses and metaphyses of the distal and middle phalanges
    • Short distal and middle phalanges
    • Varying shortening of extremities relative to trunk
  • Prenatal ultrasonography
    • Detection of affected second-trimester and third-trimester fetuses of at-risk families has been reported.
    • Characteristic findings include a narrow thorax, short hypoplastic ribs, and short tubular bones.
    • Other ultrasonographic findings include polyhydramnios and absent or feeble fetal respiratory movements.
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Other Tests

  • Pulmonary function testing may reveal severe restrictive lung disease.
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Procedures

  • Renal biopsy may reveal cystic tubular dysplasia with or without glomerular sclerosis.
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Histologic Findings

  • Lungs - Hypoplastic lungs due to a marked reduction in the number of alveolar ducts and alveoli (hypoplasia of alveoli)
  • Cartilages - Irregular endochondral ossification with patchy distribution of physeal zone of hypertrophy and radiologically irregular metaphyseal ends (asphyxiating thoracic dystrophy type I) and diffusely retarded and disorganized physes with smooth cartilage bone junctions and radiologically smooth metaphyseal ends (asphyxiating thoracic dystrophy type II)
  • Kidneys - Cystic renal dysplasia and hypoplasia, nephronophthisis or interstitial nephritis (diffuse interstitial and periglomerular fibrosis, round cell lymphocytic infiltration, hyalinized glomeruli, pericapsular thickening, thickened basement membrane, dilated or atrophic tubules), pyelonephritis with scarring, and distortion of renal parenchyma
  • Liver - Periportal hepatic fibrosis, bile duct proliferation, and early cirrhosis
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Proceed to Treatment & Management
 
 
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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