Hungarian Radiology

[Acromesomelic dysplasia du Pan]

KAISSI Al Ali1, GHACHEM Ben Maher1, CHEHIDA Ben Farid2, KOZLOWSKI Kazimierz3

OCTOBER 10, 2005

Hungarian Radiology - 2005;79(05)

[INTRODUCTION - Cartilage derived morphogenic protein (CDMP1) mutations account for several related disorders, ranging from prenatal lethal to very mild entities such as brachydactyly C. Two similar severe manifestations of CDMP1 mutations are du Pan and Hunter-Thompson syndromes. CASE REPORTS - We report two second degree relatives with du Pan syndrome. Clinical history and full skeletal surveys were analysed and compared with the data from the literature. Frequent spontaneous abortions - probably manifestation of the lethal forms of CDMP1 mutations - were present in both families. Skeletal surveys of the patients showed similar acromesomelic abnormalities consistent with du Pan syndrome. CONCLUSION - The rare publications of du Pan syndrome present usually insufficient radiographic documentation. Better radiographic imaging is necessary to establish clear-cut criteria of differentiation between du Pan and Hunter-Thompson syndrome.]

AFFILIATIONS

  1. Service d’Orthopedie; Tunis
  2. Centre de Radiologie Ibn Zahr; Tunis
  3. Department of Medical Imaging, New Children’s Hospital

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