Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome.
Distinctive tomographic features of atlantoaxial dislocation have been encountered in a child with du Pan syndrome. Three-dimensional computed tomography scan showed agenesis of the odontoid process associated with significant hypoplasia of the left lateral mass of the odontoid. Bidirectional fluorescent DNA sequencing have been used to identify mutations in the complete coding region (exon 1-2) of the cartilage-derived morphogenic protein 1 gene. No mutation was detected in the analysed region. We report what might be a novel variant of acromesomelic du Pan syndrome.
Kaissi
Ali Al
AA
4th Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital Pediatric Department, Orthopedic Hospital of Speising, Vienna, Austria Ibn Zohr Institute of Radiology Orthopedic Pediatric Surgery, Children Hospital, Tunis, Tunisia.
Chehida
Farid Ben
FB
Ghachem
Maher Ben
MB
Klaushofer
Klaus
K
Grill
Franz
F
D001268:Atlanto-Axial Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000000981:diagnostic imaging* / Q000473:pathology*; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000473:pathology*; D011859:Radiography