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Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. (2010)

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Titel Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.
Gepubliceerd in European Journal of Pediatrics, Vol. 169, p.77-88. ISSN 0340-6199.
Auteur Vries, J. de; Yntema, J.L.; Die, C.E. van; Crama, N.; Cornelissen, E.A.M.; Hamel, B.C.J.
Datum 2010
Type Artikel
Samenvatting Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years. Most patients experienced respiratory problems in the first years of their life, three died, one experienced renal complications, and one had hepatic problems. With age, the thoracic malformation tends to become less pronounced and the respiratory problems decrease. The prognosis of ATD seems better than described in literature and in our opinion this justifies long term intensive treatment in the first years. We also propose a follow-up protocol for patients with ATD.
Publicatie http://repository.ubn.ru.nl/handle/2066/87885
OpenURL Zoek deze publicatie in (uw) bibliotheek
Persistent Identifier urn:nbn:nl:ui:22-2066/87885
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Repository Radboud Universiteit Nijmegen

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