Article Text

Download PDFPDF
Cerebrocostomandibular syndrome: a diagnostic challenge
  1. Alison Conlon1,
  2. Evangelia Fragkouli2,
  3. Ailbhe Tarrant3 and
  4. Michael A Boyle2,4
  1. 1Department of Neonatology, Children's Health, Dublin, Ireland
  2. 2Department of Neonatology, Rotunda Hospital, Dublin, Ireland
  3. 3Department of Paediatric Radiology, Rotunda Hospital, Dublin, Ireland
  4. 4Department of Paediatrics, Royal College of Surgeons, Dublin, Ireland
  1. Correspondence to Professor Michael A Boyle; mboyle{at}rotunda.ie

Abstract

A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated ‘high-riding’ clavicles. A later X-ray was reported as showing interrupted posterior ribs. A tracheostomy was formed on day of life 9 given the immediate risk to the baby’s airway. Further imaging of the facial bones, skull and brain showed generous CSF spaces over the cerebral convexities and also marked hypoplasia of the mandible and mid-face. The baby’s middle ear cavities were shown to be completely opacified. Genetic testing eventually went on to confirm a diagnosis of cerebrocostomandibular syndrome, with the detection of a pathogenic variant of the small nuclear ribonucleoprotein polypeptide B gene.

  • Congenital disorders
  • Neonatal health
  • Neonatal intensive care

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: AC, EF, AT and MAB. The following authors gave final approval of the manuscript: AC, EF, AT and MAB.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

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