ArticleEuropean journal of pediatrics2007
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
Article in European journal of pediatrics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Pooled it
- A Male Infant With Chondrodysplasia Punctata Presenting With Apnea and Growth Faltering: A Case Report.Journal of paediatrics and child health · 2026Article
- X-linked ARSL chondrodysplasia punctata: expanding the spectrum with a severe multisystem phenotype.Case reports in perinatal medicine · 2026Article
- The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.Genetics in medicine open · 2025Article
- Contribution of computed tomography and magnetic resonance imaging in the analysis of fetal craniofacial malformations.Pediatric radiology · 2021Article
- Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation inFrontiers in genetics · 2021Article
- Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.BMC pediatrics · 2019Article
- Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata.Case reports in orthopedics · 2019Article
- Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.Molecular cytogenetics · 2015Article
- Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.Polish journal of radiology · 2013Article
- Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata.Pediatric radiology · 2009Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption.
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