Is isolated sagittal synostosis an isolated condition?

BACKGROUND: Scaphocephaly is the most common type of craniosynostosis. In the medical literature, there is little information about the association of scaphocephaly and other congenital anomalies.

PATIENTS AND METHODS: To determine the prevalence of genetic anomalies in scaphocephaly patients, a retrospective review of the medical charts of 30 consecutive patients was performed. A questionnaire was sent to parents to evaluate demographics.

RESULTS: The male-female ratio was 2:1, 22% of patients were born at less than 37 weeks gestation, and 4% of the patients were twins. Nineteen percent of mothers smoked during pregnancy, and 23% of the mothers consumed alcohol during pregnancy. Eighteen of the 30 patients visited the department of clinical genetics, whereas the other patients were examined by a pediatrician. Genetic analysis was performed on 8 patients. A genetic mutation on the FGFR-2 gene was found in 1 patient with Gorlin-Goltz syndrome. Except for the basal cell carcinomas and the sagittal synostoses, this patient had no other congenital anomalies. Two other patients had congenital malformations of the heart and kidneys.

CONCLUSIONS: This study demonstrates the low incidence of associated congenital anomalies and scaphocephaly. Associated factors of isolated sagittal synostosis are preterm birth and male sex.