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Rigshospitalet - a part of Copenhagen University Hospital
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An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia

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  • H D Hove
  • N V Hermann
  • C Jørgensen
  • S Kreiborg
  • K Sundberg
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OBJECTIVE: Early prenatal diagnosis of cleidocranial dysplasia (CCD) in a case in which molecular genetic analysis of the RUNX2 gene was non-informative.

METHODS: 2D ultrasound examination.

RESULTS: At week 13+6, a 2D ultrasound examination revealed a fetus with severely delayed ossification of the vertebral spine. The clavicles were barely seen and the calvarial bones were significantly less ossified than expected for gestational age. The fetus had otherwise normal anatomy and biometry. Serial ultrasound examinations during pregnancy confirmed the diagnosis, but the manifestations became less distinct. The diagnosis was confirmed clinically at birth.

CONCLUSION: This case illustrates an early easily recognizable pattern of severely delayed ossification of the vertebral spine, which is probably a characteristic of CCD.

Original languageEnglish
JournalFetal Diagnosis and Therapy
Volume24
Issue number2
Pages (from-to)103-5
Number of pages3
ISSN1015-3837
DOIs
Publication statusPublished - 2008

    Research areas

  • Adult, Cesarean Section, Clavicle, Cleidocranial Dysplasia, Core Binding Factor Alpha 1 Subunit, Female, Gestational Age, Humans, Live Birth, Osteogenesis, Pedigree, Pregnancy, Skull, Spine, Ultrasonography, Prenatal, Case Reports, Journal Article

ID: 53438690