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- Title
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome.
- Authors
Al Kaissi, Ali; Grill, Franz; Safi, Hatem; Ghachem, Maher Ben; Chehida, Farid Ben; Klaushofer, Klaus
- 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 cervicocranium malformation in a child with OMLH-Möbius syndrome.
- Subjects
TOMOGRAPHY; CROSS-sectional imaging; MEDICAL radiography; ELECTRICAL impedance tomography; DISEASES
- Publication
Orphanet Journal of Rare Diseases, 2007, Vol 2, p2
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-2-2