KINDERRADIOLOGIE ONLINE - view radiology images and radiology cases
Lesen Sie diese Seite auf Deutsch   Read this page in English
The Peer Reviewed Pediatric Radiology Platform on the Web
ISSN: 1942-955X :: Publisher: EduRad ::Editor-In-Chief: Roland Talanow, MD, PhD  
Browse Browse || Search Search || Online Book Systematically Online Book Systematically || Discussion Forum Discussion Forum || News News || Submit a Case Submit a Case || Rules Rules |
Most Interesting Cases Most Interesting Cases || "Most Diligent" Authors "Most Diligent" Authors || Case of the Day Case of the Day || Teaching files Teaching files || Links Links |
Newsletter Newsletter || Start Start || Survey Survey || Your Opinion Your Opinion || My Profile My Profile || CME-Credits CME-Credits |
    Pediatric Radiology News / Ads / Jobs Get the Pediatric Radiology News as RSS feed !
    Send us your news or ads for free
  • Antenatal Diagnosis of a Large Immature Abdominal Wall Teratoma by 2D-3D Ultrasound Using HDlive and... (Fetal Pediatr Pathol)
  • Pediatric Brain: Repeated Exposure to Linear Gadolinium-based Contrast Material Is Associated with I... (Radiology)
  • Fetal MRI: incidental findings in the mother.... (Pediatr Radiol)
  • CME Kurs: Paediatric Body MRI

  • CME course: Paediatric Body MRI

  • Universitätsklinikum Jena sucht eine Ärztin/einen Arzt in Weiterbildung in Vollzeit

  • Kinderspital Zürich sucht Oberärztin / Oberarzt (100 %)

  • Kinderradiologische Oberärztin / Oberarzt gesucht

  • 2 Stellen in der Kinderradiologie - 1 Assistenzärztin/Assistenzarzt und 1 Oberärztin/Oberarzt in Voll- oder Teilzeit

  • Senior Paediatric Radiologist in Pediatric Radiology section needed

  • Facharzt als Oberärztin / Oberarzt in Sektion Kinderradiologie gesucht

  • Stellenangebot für Assistenzarzt (m/w) zur Facharztausbildung für RADIOLOGIE und/oder KINDERRADIOLOGIE

  • „Fellow“-Stelle zur Weiterbildung in Pädiatrischer Radiologie am Kinderspital Zürich

  • Fellow-Stelle Pädiatrische Neuroradiologie

  • FFF Kinderradiologie - Muskuloskelettale Radiologie im Kindesalter (Fit für den Facharzt)

  • Assistenzarzt für Kinderradiologe gesucht an Universitätsklinikum Schleswig-Holstein, Campus Kiel

  • Turnusarzt (m/w) in Ausbildung zum Facharzt (m/w) für Radiologie

  • Assistenzarzt (m/w) zur Weiterbildung im Schwerpunkt Kinderradiologie

  • Send us your news or ads for free

    Get the Pediatric Radiology News as RSS feed !


    Radiolopolis

    The dynamic Radiology community for education, research and practice


     

    Go to the top of the page   ID: 20060502102116 Original case in english  More links about this topic on Pubmed (PubMed Reader)
    Add this case to your RSS feeder: Subscribe to RSS feed Add to Yahoo Add to Google Add to AOL Add to Furl Subscribe to Feed Burner feed

    Bookmark and Share


    | The Authors | Discussion | Write a Comment to this Case |
    | Evaluate this Case | Recommend this Case to a Colleague | Survey Results |
    | Citation | Similar Cases | Similar Cases in the Internet | Images to this Case |
     
    Metatrophic Dysplasia
    T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
    URL: www.PedRad.info/?search=20060502102116


     
     Pediatric Radiology CasesImages to this case: There are X-Ray-images available for this case. [ X-Ray ] View all modalities [ All ]   
     Pediatric Radiology CasesAuthor/s:

    T. Haufe, K. Stahn (Radiologie SKH DD-Neustadt und Kinderklinik SKH DD-Neustadt)  

     
     Pediatric Radiology CasesEmail Address:

    Viewable for logged on visitors (Log on)  

     
     Pediatric Radiology CasesAge:

    Newborn  

     
     Pediatric Radiology CasesGender:

    Female  

     
     Pediatric Radiology CasesRegion-Organ:

    Syndromes  

     
     Pediatric Radiology CasesMost likely etiology:

    congenital  

     
     Pediatric Radiology CasesHistory:

    Full-term, eutrophic, dysproportionate newborn, APGAR 8/7/9, clinically elongated trunk, short thoracic region and short extremities. Facial dysmorphy, palpable tibial head, post-partum respiratory distress.  

     
     Pediatric Radiology CasesPathomorphology or Pathophysiology of this disease :

    Genetic cause with dysfunction of enchondral and pericondral bone growth.

    Generally very heterogenic illness, molecular defect still unknown.  

     
     Pediatric Radiology CasesRadiological findings:


    X-Ray 1 <- view X-Ray 1

    X-Ray 1: Thorax ap.supine: Plump rib pairs, shortened ribs (1-6), Lung hypoplasia, assymetrical location of the diaphragm, also ventilation disturbances on the left side. Platyspondylia, plump shoulders with expansion of the inferior angles of both scapulae.





    X-Ray 2 <- view X-Ray 2

    X-Ray 2: Spine lateral: distinct platyspondylia, also distension of the metaphyses of the long bones.





    X-Ray 3 <- view X-Ray 3

    X-Ray 3: Pelvic overview ap. (enlarged detail): Plump pelvic skeleton with halbert-like deformed ala, shortening of the femurs with distension of the metaphyses (Dumbbell-like)



    X-Ray 4 <- view X-Ray 4

    X-Ray 4: Arm left. ap. (enlarged detail): Shortened long bones with distension of the metaphyses in the humerus, overly-proportinally large hand, cupping of the metaphyses of the short bones of the hand and forearms.





    X-Ray 5 <- view X-Ray 5

    X-Ray 5: postmortum babygram ap.: In conjunction to the afore-mentioned changes, the shortened tibiae with distension of the metaphyses.



     

     
     Pediatric Radiology CasesDiagnosis confirmation:

    Total constellation (Consens)  

     
     Pediatric Radiology CasesWhich DD would be also possible with the radiological findings:

    Achondroplasia,
    Osteodysplasia Kniest,
    Mucopolysaccaridosis IV  

     
     Pediatric Radiology CasesCourse / Prognosis / Frequency / Other :

    Clinical course: With CPAP, the child transiently stabilized, but weaning from the ventilator was not possible. Increased respiratory insufficiency with required ventilation. Death on the 28th day of life due to respiratory insufficiency.

    Very rare illness, where the patient had an early lethal form with thoracic and lung hypoplasia (autosomal-dominant form). There are also autosomal-recessive forms with more positive clinical courses. In these cases, there is a proportion-reversal (initially, the extremity shortening dominates, later the truncal shortening).
    Often proof of a tail-stump.  

     
     Pediatric Radiology CasesComments of the author about the case:

    Special thanks to Prof. Dr. E. Rupprecht, Dresden.  

     
     Pediatric Radiology CasesFirst description / History:

    N/A  

     
     Pediatric Radiology CasesLiterature:

    1. Medline: Medline
    Wiedemann/Kunze
    Atlas der klinischen Syndrome für Klinik und Praxis
    Schattauer Verlag Stuttgart, New York 1995

    2. Medline: Medline
    Baraitser/Winter
    Missbildungssyndrome
    Verlag Hans Huber Bern 2001  

     
     Pediatric Radiology CasesKeywords:

    Bone dysplasia, bone growth dysfunction, child, childhood, pediatric radiology  

     
     Pediatric Radiology Cases Cite this article:

    T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
    URL: www.PedRad.info/?search=20060502102116  

     
     Pediatric Radiology Cases Read similar articles: with corresponding keywords
    in the same field: Syndromes
    or in the region: Syndromes
    or in the tissue/organ:
    or with the etiology: congenital
     
     Pediatric Radiology CasesImages to this case: There are X-Ray-images available for this case. [ X-Ray ] View all modalities [ All ]   
     
    Metatrophic Dysplasia
    T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
    URL: www.PedRad.info/?search=20060502102116


     

    Search similar cases in:
    More links about this topic on Pubmed  More links about this topic on Yahoo  More links about this topic on Altavista  More links about this topic on MSN  More links about this topic on Google  More links about this topic on Fireball

    Peer-reviewed Radiology Search



    Metatrophic Dysplasia
    Other cases by these authors:

    Search T. Haufe in Medline T. Haufe (4)   
    Search K. Stahn in Medline K. Stahn (1)   

    Metatrophic Dysplasia  
     
    Metatrophic Dysplasia
    T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
    URL: www.PedRad.info/?search=20060502102116


     

    Which diagnosis have other collegues guessed?


    • Metatrophic dysplasia
      Votes: 5 (38 %)


    • Achondrodysplasia
      Votes: 5 (38 %)


    • Osteodysplasia Kniest
      Votes: 1 (7 %)


    • Mucopolysaccharidosis IV
      Votes: 2 (15 %)



        Total answers: 13

     
    Metatrophic Dysplasia
    T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
    URL: www.PedRad.info/?search=20060502102116


     

    Medical Dictionary
    Search in medical dictionary for
    Or type in a keyword
    ( Provided by The On-Line Medical Dictionary )




    How interesting was this case for you?
    (10 = most interesting || 1 = less interesting)
     
    Metatrophic Dysplasia
    T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
    URL: www.PedRad.info/?search=20060502102116


     




    Discussion >> Write Comment <<



      There are no comments available regarding this case.





     Write a comment to this case (With * marked fields have to be filled)

    Type in this number: 5836

    Name: *

    E-Mail:

    Website:

    Subject: *

    Text: *




     
      Pediatric Radiology Discussion Get the Pediatric Radiology Discussion as RSS feed !
      To the discussion forum
      To the discussion forum

      Get the Pediatric Radiology Discussion as RSS feed !

      © 2001-2016   www.kinderradiologie-online.de
      In cooperation with © Radiolopolis - Radiology Search - Radiology Teacher - PubMed Reader - Annotate - Radiology Lectures & Tutorials - Radiology Boards Preparation - Pediatric Radiology Links - Pediatric Radiology Information - Emergency Radiology - Lung Cancers - USMLE Forums - Cancer Staging Information - Chest Radiology - Radiology Case Report Journal
      For suggestions and questions: information@kinderradiologie-online.de
      Add this site to your favorites (CTRL+D)