Recognising a child with isolated craniosynostosis

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 …