Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

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-co...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2007-01, Vol.2 (1), p.2-2, Article 2
Main Authors: Al Kaissi, Ali, Grill, Franz, Safi, Hatem, Ben Ghachem, Maher, Ben Chehida, Farid, Klaushofer, Klaus
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Abnormalities, Multiple - physiopathology
Case Report
Child Development
Child, Preschool
Craniofacial Abnormalities - diagnosis
Craniofacial Abnormalities - genetics
Craniofacial Abnormalities - physiopathology
Humans
Infant
Infant, Newborn
Limb Deformities, Congenital - diagnosis
Limb Deformities, Congenital - genetics
Limb Deformities, Congenital - physiopathology
Male
Mobius Syndrome - diagnosis
Mobius Syndrome - genetics
Mobius Syndrome - physiopathology
Phenotype
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Summary: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.
ISSN:1750-1172
1750-1172
DOI:10.1186/1750-1172-2-2