L’atrésie congénitale des choanes est une malformation rare mais non exceptionnelle. L’obstruction bilatérale de la région postérieure des cavités nasales est. Disease definition. Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia). Disease definition. Choanal atresia – deafness – cardiac defects – dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare.
|Published (Last):||6 February 2007|
|PDF File Size:||3.55 Mb|
|ePub File Size:||7.7 Mb|
|Price:||Free* [*Free Regsitration Required]|
Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction.
Orphanet: Arhinie atresie des choanes microphtalmie
We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen ces soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve taresie paralysis.
The blood count showed normocytic normochromic anemia with severe thrombocytopenia.
Journal Tunisien d’ORL et de Chirurgie Cervico-Faciale
The infectious work-up and blood smears were negative. The skeleton X-ray dess diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The patient had supportive treatment transfusion, oral steroid, vitamin D, oxygen, nutrition. Bone marrow transplantation was indicated but not available.
Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment. Dhoanes page Archives Contents list. A case report S.
Informations sur l’atrésie choanale – Unité des voies aériennes – CHUV
Access to the text HTML. Access to the PDF text. Access to the full text of this article requires a subscription.
If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. If you want to subscribe to this journal, see our rates You atresiee purchase this item in Pay Per View: Malignant infantile osteopetrosis revealed by choanal atresia: Thiongane aA.
Fattah aP. Faye aD.
Outline Masquer le plan. Top of the page – Article Outline. Contact Help Who are we? As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted.
Personal information regarding our website’s visitors, including their identity, is confidential. The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties.
You can move this window by clicking on the headline.