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Severe micrognathia with rib dysplasia: cerebro-costo-mandibular syndrome
  1. Priya Ramaswamy1,
  2. Samantha Negus2,
  3. Tessa Homfray3,
  4. Laura De Rooy4
  1. 1Department of Paediatrics, The Royal London Hospital, London, UK
  2. 2Department of Radiology, St George's Hospital, London, UK
  3. 3Department of Genetics, St George's Hospital, London, UK
  4. 4Neonatal Unit, St George's Hospital, London, UK
  1. Correspondence to Dr Priya Ramaswamy, Department of Paediatrics, The Royal London Hospital, London E11BB, UK; ramaswamypriya{at}

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A full-term female infant was born with features of Pierre Robin sequence. A nasopharyngeal airway (NPA) was inserted at birth due to difficulties with breathing. However, the NPA blocked due to profuse secretions and led to respiratory arrest at 3 weeks of life, requiring cardiopulmonary resuscitation. She subsequently underwent an elective tracheostomy (figure 1).

Figure 1

Baby with severe micrognathia and tracheostomy.

Her …

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  • Contributors PR drafted the manuscript and obtained consent. LDR managed the patient on the neontatal unit. SN and TH contributed towards the diagnosis and literature search.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.