Rhizomelic chondrodysplasia punctata: a classic ‘spot’ diagnosis
- 1Neonatal Unit RVI, Northern Deanery, Newcastle upon Tyne, UK
- 2Women’s Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 3Department of Clinical Genetics, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- Correspondence to Robert J Tinnion,
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 …