{
  "abstract": "Neonates born with congenital vertical talus (‘rocker-bottom foot’) are challenging to diagnose and manage. The immediate management is generally based on assessing for Edwards syndrome (trisomy 18) or other similar severe life-limiting chromosomal disorders when there are dysmorphic features suggestive of a genetic syndrome, and no clear neurological focus such as a neural tube defect or spinal muscular atrophy disorder. Often the initial fluorescent in situ hybridisation genetic testing is reported as normal, appearing to exclude a trisomy diagnosis. We use two similar neonatal case scenarios with different diagnoses to discuss the next steps in genetic testing and the use of microarray, karyotyping and whole exome sequencing tools in managing these complex cases.",
  "authors": [
    {
      "affiliations": [
        "Departments of Genetic Medicine, Queen’s University Belfast Faculty of Medicine Health and Life Sciences, Belfast, UK",
        "Johnston centre for Cancer Research, Queens University of Belfast, Belfast, UK"
      ],
      "name": "Patrick J Morrison"
    },
    {
      "affiliations": [
        "Department of Neonatology, Ulster Hospital, Dundonald, UK"
      ],
      "name": "Carl Harris"
    },
    {
      "affiliations": [
        "Department of Genetic Medicine, Belfast City Hospital Health and Social Services Trust, Belfast, UK"
      ],
      "name": "Ciaran Mccarthy"
    },
    {
      "affiliations": [
        "Department of Paediatric Respiratory Medicine, Belfast Health and Social Care Trust, Belfast, UK"
      ],
      "name": "Niamh Galway"
    },
    {
      "affiliations": [
        "Department of Paediatric Neurosurgery, Great Ormond Street Hospital, London, UK"
      ],
      "name": "Dominic Thompson"
    }
  ],
  "title": "Neonate with ‘rocker-bottom’ feet: what to do when it is not Edwards syndrome",
  "uid": "add0adf0-f433-5bfe-aba7-859e5b4b40e6"
}