Progressive non-infectious anterior vertebral fusion

Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(34.4%)		 29642148
(5908595)
 Turning the backbone into an ankylosed concrete-like structure: Case report.
Kaissi AA, Chehida FB, Grill F, Ganger R, Kircher SG.
Medicine (Baltimore). 2018;97(15):e0278.
Osteoporosis Scoliosis Fractures of the long bones
COL1A1 CTSA
Ankylosis Differential Diagnosis Disease Management Females Homo sapiens Imaging, Three-Dimensional Lysosomal Storage Diseases Mutation Osteogenesis Imperfecta Osteoporosis Spinal Diseases X-Ray Computed Tomography Young Adult
2
(23.3%)		 25485486
 Long-term clinical and radiological outcomes of Copenhagen syndrome with 19 affected levels: a case report.
Malagelada F, Sewell MD, Fahmy A, Gibson A.
Spine J. 2015;15(4):e19-23.
Kyphosis
Females Homo sapiens Infant Syndrome
2
(23.3%)		 17147792
(1712336)
 Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis.
Al Kaissi A, Chehida FB, Ghachem MB, Grill F, Klaushofer K.
BMC Musculoskelet Disord. 2006;7:94.
Vertebral fusion
Cervical Vertebrae Child Females Homo sapiens Situs Inversus Spinal Cord Spinal Cord Diseases
2
(23.3%)		 16328382
 Progressive non-infectious anterior vertebral fusion (Copenhagen Syndrome) in three children: features on radiographs and MR imaging.
Hughes RJ, Saifuddin A.
Skeletal Radiol. 2006;35(6):397-401.
Kyphosis
Child Females Homo sapiens Magnetic Resonance Imaging Male Spinal Diseases Syndrome
2
(23.3%)		 3810179
 Progressive non-infectious anterior vertebral fusion.
Smith JR, Martin IR, Shaw DG, Robinson RO.
Skeletal Radiol. 1986;15(8):599-604.
Spinal cord compression Kyphosis
Age Factors Child Child, Preschool Females Fetal Diseases Homo sapiens Male Pregnancy Scheuermann's Disease
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000311 Round face Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000925 Abnormality of the vertebral column Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001176 Large hands Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0002937 Hemivertebrae Very frequent (99-80%)
HP:0005108 Abnormality of the intervertebral disk Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000098 Tall stature Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001999 Abnormal facial shape Occasional (29-5%)
HP:0002011 Morphological abnormality of the central nervous system Occasional (29-5%)
HP:0002653 Bone pain Occasional (29-5%)
HP:0003306 Spinal rigidity Occasional (29-5%)
HP:0003363 Abdominal situs inversus Occasional (29-5%)
HP:0005037 Proximal radio-ulnar synostosis Occasional (29-5%)
HP:0100777 Exostoses Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0005619 Thoracolumbar kyphosis 1
HP:0100774 Hyperostosis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID