{
  "abstract": "A late preterm (ex 35 weeks’ gestation) male infant was referred at 5 weeks of age (term corrected) with respiratory distress and feeding difficulties which had been present since birth. Examination revealed hypertrichosis, coarse features, a harsh continuous murmur and 2 cm hepatomegaly. His echocardiogram identified a patent ductus arteriosus which failed initial medical treatment and required early device closure. Structural heart disease alongside characteristic phenotypic features, including hypertrichosis and coarse facial features, prompted targeted genetic evaluation which confirmed a pathogenic ABCC9 variant, diagnostic of Cantú syndrome. The early recognition of this rare diagnosis enabled coordinated multidisciplinary care and family counselling. This case expands the literature by highlighting early neonatal presentation and the importance of clinical suspicion based on characteristic features.",
  "authors": [
    {
      "affiliations": [
        "Department of General Paediatrics, Children’s Health Ireland at Crumlin, Dublin, Ireland"
      ],
      "name": "Lisa Corley"
    },
    {
      "affiliations": [
        "Department of Paediatric Cardiology, Children’s Health Ireland at Crumlin, Dublin, Ireland"
      ],
      "name": "Esme Dunne"
    },
    {
      "affiliations": [
        "Department of Paediatric Cardiology, Children’s Health Ireland at Crumlin, Dublin, Ireland"
      ],
      "name": "Terence Prendiville"
    },
    {
      "affiliations": [
        "Department of General Paediatrics, Children’s Health Ireland at Crumlin, Dublin, Ireland"
      ],
      "name": "Jean Donnelly"
    }
  ],
  "title": "Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues",
  "uid": "2539e516-f15e-5767-a2d2-f4cbd0ff3651"
}