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-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.
Al Kaissi
Ali
A
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at
Grill
Franz
F
Safi
Hatem
H
Ben Ghachem
Maher
M
Ben Chehida
Farid
F
Klaushofer
Klaus
K
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002657:Child Development; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D020331:Mobius Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype