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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Autores principales: Kaissi, Ali Al, Grill, Franz, Safi, Hatem, Ghachem, Maher Ben, Chehida, Farid Ben, Klaushofer, Klaus
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1774563/
https://www.ncbi.nlm.nih.gov/pubmed/17210070
http://dx.doi.org/10.1186/1750-1172-2-2
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author Kaissi, Ali Al
Grill, Franz
Safi, Hatem
Ghachem, Maher Ben
Chehida, Farid Ben
Klaushofer, Klaus
author_facet Kaissi, Ali Al
Grill, Franz
Safi, Hatem
Ghachem, Maher Ben
Chehida, Farid Ben
Klaushofer, Klaus
author_sort Kaissi, Ali Al
collection PubMed
description 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.
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spelling pubmed-17745632007-01-18 Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome Kaissi, Ali Al Grill, Franz Safi, Hatem Ghachem, Maher Ben Chehida, Farid Ben Klaushofer, Klaus Orphanet J Rare Dis Case Report 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. BioMed Central 2007-01-08 /pmc/articles/PMC1774563/ /pubmed/17210070 http://dx.doi.org/10.1186/1750-1172-2-2 Text en Copyright © 2007 Kaissi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kaissi, Ali Al
Grill, Franz
Safi, Hatem
Ghachem, Maher Ben
Chehida, Farid Ben
Klaushofer, Klaus
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
title Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
title_full Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
title_fullStr Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
title_full_unstemmed Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
title_short Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome
title_sort craniocervical junction malformation in a child with oromandibular-limb hypogenesis-möbius syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1774563/
https://www.ncbi.nlm.nih.gov/pubmed/17210070
http://dx.doi.org/10.1186/1750-1172-2-2
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