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BMJ Case Reports 2011; doi:10.1136/bcr.01.2011.3747
  • Images in...

Rhizomelic chondrodysplasia punctata: a classic ‘spot’ diagnosis

  1. Sundeep Harigopal2
  1. 1Neonatal Unit RVI, Northern Deanery, Newcastle upon Tyne, UK
  2. 2Women’s Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  3. 3Department of Clinical Genetics, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  1. Correspondence to Robert J Tinnion, rjtinnion{at}doctors.org.uk

Description

Figures 1 and 2 are radiographs from a neonate admitted to our neonatal intensive care unit. He was delivered by ventouse, at term, requiring no resuscitation. Detailed antenatal ultrasound had shown disproportionately shortened humeri with indistinct metaphyses suggesting a significant skeletal dysplasia.

Examination confirmed proximally shortened limbs, hip and knee contractures, bilateral lens opacities and dysmorphic facial features …

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