Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review

Congenit Anom (Kyoto). 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003.


Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention.

Keywords: chondrodysplasia punctata brachytelephalangic type; fetal magnetic resonance imaging; prenatal diagnosis; spinal cord compression.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Cervical Vertebrae / pathology*
  • Chondrodysplasia Punctata / complications*
  • Chondrodysplasia Punctata / diagnosis
  • Female
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis
  • Spinal Cord Compression / diagnosis*
  • Spinal Cord Compression / etiology*
  • Tomography, X-Ray Computed
  • Ultrasonography, Prenatal

Supplementary concepts

  • X-Linked Chondrodysplasia Punctata 1