Title |
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
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Published in |
Orphanet Journal of Rare Diseases, January 2007
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DOI | 10.1186/1750-1172-2-2 |
Pubmed ID | |
Authors |
Ali Al Kaissi, Franz Grill, Hatem Safi, Maher Ben Ghachem, Farid Ben Chehida, Klaus Klaushofer |
Abstract |
We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 5% |
Denmark | 1 | 5% |
Italy | 1 | 5% |
Tunisia | 1 | 5% |
Unknown | 17 | 81% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 3 | 14% |
Student > Ph. D. Student | 3 | 14% |
Professor | 2 | 10% |
Student > Postgraduate | 2 | 10% |
Student > Master | 2 | 10% |
Other | 4 | 19% |
Unknown | 5 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 48% |
Agricultural and Biological Sciences | 2 | 10% |
Biochemistry, Genetics and Molecular Biology | 1 | 5% |
Computer Science | 1 | 5% |
Chemistry | 1 | 5% |
Other | 0 | 0% |
Unknown | 6 | 29% |