Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum.
We report a 7-year-old-girl who presented with the clinical criteria of the axial mesodermal dysplasia spectrum. Her parents were first cousins. Her facial dysmorphism was compatible with Goldenhar syndrome and in addition, she had anterior noninfectious vertebral fusions of the cervical and the thoracolumbar vertebrae, a congenital dermal sinus and a hypoplastic sacrum. The urogenital and the anal-recto regions were normal. To the best of our knowledge, this is the first clinical report of a child with axial mesodermal dysplasia in association with progressive noninfectious anterior vertebral fusion.
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 Orthopaedic Hospital of Speising, Vienna, Austria.
Grill
Franz
F
Alexander
Krebs
K
Varga
Franz
F
Klaushofer
Klaus
K
D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008648:Mesoderm; D010009:Osteochondrodysplasias / Q000473:pathology*; D013131:Spine / Q000473:pathology*