BACKGROUND: The severity and dysmorphology that results from the premature 
fusion of one or more cranial sutures is not uniform. Less striking phenotypes 
may be more easily missed on routine screening, possibly leading to delayed 
diagnosis and treatment. The purpose of this study was to compare the age at 
initial presentation for the different forms of craniosynostosis.
METHODS: The authors reviewed the records of all patients who underwent open 
craniofacial repair of craniosynostosis at a single institution from 1996 to 
2009. Relationships between type of suture fusion and age at initial 
consultation were compared.
RESULTS: Two hundred eleven patients (136 males, 75 females) were identified. 
Indications included sagittal (n = 96), metopic (n = 39), unicoronal (n = 33), 
bicoronal (n = 24), multisutural (n = 15), bilambdoidal (n = 3), and 
unilambdoidal (n = 1) synostoses. Seventeen patients (8.1%) had a 
craniosynostosis syndrome and 5 (2.4%) had a syndrome or disorder not typically 
associated with craniosynostosis [X-linked hypophosphatemic rickets (n = 3), 
achondroplasia (n = 1), and Beckwith Wiedemann (n = 1)]. Median age at initial 
consultation was 4.1 months; there was no gender difference. Patients with 
X-linked hypophosphatemic rickets presented at a significantly older age than 
nonsyndromic patients or those with a known craniosynostosis syndrome. Those 
with multisutural synostosis presented at a significantly older age than 
patients with sagittal or bicoronal synostosis.
CONCLUSIONS: Patients with multisutural involvement or X-linked hypophosphatemic 
rickets had a significant delay in presentation for craniosynostosis. The latter 
group of patients may especially benefit from routine surveillance for 
craniosynostosis given their advanced age at diagnosis.