Background: Reports of systemic associations in patients with Isolated Sagittal
Synostosis (ISS) are sparse. Craniofacial surgeons, and other providers, should be
aware that a significant proportion of patients with ISS may have syndromic or
systemic involvement. This study investigates the incidence of systemic disease and
syndromic diagnosis in a cohort of patients presenting with ISS (ie, patients with
sagittal synostosis without other sutural involvement).
Methods: This study consists of a retrospective review of patients diagnosed with
ISS between 2007 and 2017 at a single institution. Patients were divided according
to onset (early <1 year, late >1 year) of ISS. Patient notes were examined for congenital
anomalies, systemic conditions, and molecular testing. Only patients with
isolated sagittal fusion—meaning, patients with sagittal synostosis and no other
sutural involvement—were included.
Results: Three hundred seventy-seven patients met the inclusion criteria: systemic
conditions were identified in 188/377 (50%) of them. One hundred sixty-one
patients with early onset (Group A), and 216 patients with late onset ISS (Group
B) were identified. Systemic involvement was identified in 38% of Group A and
60% of Group B, which was statistically significant (P < 0.001). Forty-eight of 377
(13%) of patients had a syndromic diagnosis, and 79% of these were confirmed via
genetic testing. Thirty-five percent of patients were diagnosed with central nervous
system anomalies and 16% had craniofacial anomalies.
Conclusions: Nearly 50% of the patients initially diagnosed with ISS were found
to have some form of systemic involvement. This supports affording full pediatric
and genetic evaluation with molecular testing to these children.