Postoperative cognitive outcome for synostotic frontal plagiocephaly.

OBJECT: The goals of this study were to evaluate the cognitive outcome after surgery for synostotic frontal plagiocephaly and to compare the effects of early (< 1 year of age) and late (> or = 1 year of age) surgical correction on intellectual development. METHODS: In a prospective study involving 220 patients, both preoperative and postoperative cognitive function were measured using developmental quotient (DQ) or intelligence quotient (IQ) determination. Preoperative intracranial pressure (ICP) was also measured, and the presence of the fibroblast growth factor receptor 3 (FGFR3) P250R mutation was assessed. CONCLUSIONS: Preoperative DQ/IQ was not affected by patient age at the time of surgery. There was no statistically significant difference in mean postoperative IQ between patients who underwent surgery before 1 year of age and those who underwent surgery at 1 year of age or older. In the latter group, there was a statistically significant increase in the incidence of elevated ICP (> or = 15 mm Hg in 16%), but no effect on cognitive outcome was observed. Likewise, there was no statistically significant correlation between the presence of the FGFR3 mutation and postoperative IQ. The indication for surgical correction appears to be largely cosmetic.

Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature.

CASE REPORT: We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). The patients underwent surgical treatment for the craniofacial deformity, during which standard frontocranial reconstruction was performed. REVIEW OF THE LITERATURE: Only 32 patients have been reported in the world literature and these cases support the emerging view that BGS is not a distinct syndrome, but should instead be considered to be an heterogeneous phenotype with variable etiology. CONCLUSIONS: Our case series suggests for the first time that fetal sodium valproate exposure may also cause this phenotype.

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families.

OBJECT: The origins of both sagittal synostosis (scaphocephaly) and metopic synostosis (trigonocephaly) remain unclear. Genetic and environmental factors probably play a role. Twin and family data of patients with these conditions are presented. METHODS: Records of 860 patients with scaphocephaly and 394 with trigonocephaly were examined for prevalence of twin birth and family history. Concordance rates of disease in monozygotic (MZ) and dizygotic (DZ) twins were compared. A family history of disease was present in 5.7% of children with scaphocephaly and in 6.8% with trigonocephaly. The frequency of twins was 4.2% in sagittal synostosis and 6.8% in metopic synostosis, which is higher than in the normal population. Twenty-eight of 38 twin pairs with a scaphocephalic proband were identified to be DZ and 10 were confirmed to be MZ (MZ/DZ ratio 0.36). Twenty of 27 twin pairs with trigonocephaly were DZ and seven were MZ (MZ/DZ ratio 0.35). Concordance rates were higher in the MZ group, 30% for scaphocephaly and 43% for trigonocephaly (chi2 = 14.4091, p = 0.0001). There was a strong prevalence of boys, with a frequency of 79.1% with scaphocephaly and 75.8% with trigonocephaly. Twinning was more frequent among affected boys in both groups. CONCLUSIONS: A midline craniosynostosis is more likely to develop in twins compared with singletons. A genetic component is supported by the higher risk in MZ twins. The presence of an environmental component is reinforced by the high rate of twinning, the normal MZ/DZ ratio, and a less than 100% concordance rate in MZ twins.

Postoperative mental and morphological outcome for nonsyndromic brachycephaly.

Bilateral coronal synostosis causes functional and morphological problems that require fronto-orbital advancement in infancy to correct the brachycephalic deformity and to prevent mental impairment caused by the intracranial hypertension. In this study, 99 children with isolated cases of brachycephaly were prospectively followed to study their preoperative and postoperative mental outcome, which was evaluated using developmental or intelligence quotients. Several factors were analyzed: age before treatment, age at the time of surgery, and the correlation between mental assessments before and after surgery. In a subgroup or patients tested for the FGFR3 P250R mutation (n = 48), mental and morphological assessments were analyzed. Before surgery, mental status was better in the patients tested before 1 year of age (p < 0.001). The preoperative mental assessment always correlated with the postoperative assessment (p < 0.0001). The postoperative mental outcome was better when surgery was performed before the patient reached 1 year of age (p < 0.02). Although both the morphological and functional outcomes were better in the subgroup of noncarriers of the mutation, the differences were not statistically significant. Prominent bulging of the temporal fossae was frequently responsible for poor morphological outcome in carriers of the mutation. This study confirms the need for early corrective surgery before 1 year of age in brachycephalic patients to prevent impairment of their mental development. Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation. Primary correction of the temporal bulging should be performed in conjunction with fronto-orbital advancement to improve the morphological outcome in patients with the mutation.