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Practice Practice Pointer

Recognising a child with isolated craniosynostosis

BMJ 2023; 381 doi: (Published 05 June 2023) Cite this as: BMJ 2023;381:e073906
  1. Rosanna C Ching, consultant plastic and reconstructive surgeon1,
  2. Sophie C Palmer, general practitioner2,
  3. Keri L Jones, consultant neonatologist3,
  4. David Johnson, consultant plastic and reconstructive surgeon1
  1. 1Oxford Craniofacial Unit, John Radcliffe Hospital, Oxford, UK
  2. 2Hull York Medical School, York, UK
  3. 3Hull University Teaching Hospitals NHS Trust, Hull Royal Infirmary, Hull, UK
  1. Correspondence to R Ching: Rosanna.Ching{at}

What you need to know

  • Craniosynostosis is the premature fusion of cranial sutures in children, which produces abnormal head shapes

  • Clinical recognition of craniosynostosis is possible based on head shape when looking from above

  • Identification and referral to a specialist unit before 6 months of age enables a greater range of treatment options

Primary care practitioners often see parents with concerns about their infant’s head shape, through direct presentation or referral by a health visitor. Clinicians should consider craniosynostosis, the premature fusion of cranial sutures in a child, as a possible diagnosis when reviewing these patients. This condition has a global prevalence of approximately one in 1695 live births.1

Premature fusion occurs antenatally in most patients, with just 2.4% of cases occurring postnatally, secondary to other conditions.2 It is not clearly identifiable on antenatal ultrasound. Single suture fusion is seen in 78% of cases, and multiple suture fusions in 22%. Sixty nine per cent of patients have an isolated craniosynostosis with no other associated clinical anomaly. The remaining 31%, commonly multi-suture cases, have craniosynostosis as part of a wider clinical syndrome, eg, Apert syndrome. These syndromes are well described elsewhere and are not the focus of this article.3 In patients clinically assumed to be non-syndromic, 7% have a genetic diagnosis found.4 In those without a genetic diagnosis, the cause is thought to be environmental. Consequently, a single suture isolated non-syndromic craniosynostosis is the scenario most frequently seen in primary care.2

Infants in the UK are examined by a paediatrician or a specially trained midwife within 72 hours of birth, and again at around eight weeks by their GP; however, no formal screening for craniosynostosis takes place at either point,5 resulting in missed opportunities for early recognition. Some GPs may be uncertain about differentiating between the commonly seen positional plagiocephaly …

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