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.


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.
Butzelaar
Liselotte
L
Division of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Breugem
Corstiaan C
CC
Hanlo
Patrick
P
Mink van der Molen
Aebele B
AB
D000328:Adult; D000428:Alcohol Drinking; D003393:Cranial Sutures / Q000002:abnormalities*; D003398:Craniosynostoses / Q000209:etiology* / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D008423:Maternal Age; D009154:Mutation / Q000235:genetics; D010294:Parietal Bone / Q000002:abnormalities*; D010331:Paternal Age; D011247:Pregnancy; D011248:Pregnancy Complications; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D012189:Retrospective Studies; D012737:Sex Factors; D012907:Smoking; D014427:Twins; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D005492:Folic Acid; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2