title: Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
abstract: Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio's syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73-76, 2002]. We report two siblings and their mother, with congenital, persistent torticollis, plagiocephaly, facial asymmetry, grooved tongues, and asymptomatic "dolicho-odontoid process". All are of normal intelligence. No associated Neurological dysfunction, paresis, apnoea, or failures to thrive were encountered. Radiographs of the cervical spine were non-contributory, but 3D CT scanning of this area allowed further visualisation of the cervico-cranial malformation complex in this family and might possibly explain the sudden early juvenile mortality. Agenesis of the posterior arch of the atlas and bifidity/clefting of anterior arch of the atlas associated with asymptomatic "dolicho-odontoid process" were the hallmark in the proband and his female sibling. Some of the features were present in the mother. All the family subjects were investigated. To the best of our knowledge the constellation of malformation complex in this family has not been previously reported.
authors.affiliation: Osteology research, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital, Heinrich Collin-Str. 30, 1140, Vienna, Austria. ali.alkaissi@osteologie.at
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Farid
authors.initials: F
authors.lastname: Ben Chehida
authors.forename: Hassan
authors.initials: H
authors.lastname: Gharbi
authors.forename: Maher
authors.initials: M
authors.lastname: Ben Ghachem
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.forename: Franz
authors.initials: F
authors.lastname: Varga
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
mesh_terms: D000293:Adolescent; D000328:Adult; D001268:Atlanto-Axial Joint / Q000002:abnormalities / Q000000981:diagnostic imaging; D001270:Cervical Atlas / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000151:congenital*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009809:Odontoid Process / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012307:Risk Factors; D016135:Spinal Dysraphism / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D016103:Spinal Fractures / Q000175:diagnosis / Q000517:prevention & control; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014059:Tongue / Q000002:abnormalities*; D014103:Torticollis / Q000151:congenital*