To study the relationship between maternal thyroid disease and craniosynostosis using data from the National Birth Defects Prevention Study, a multisite, case-control study.
Case infants (n=431) were identified through population-based birth defects surveillance systems at eight sites and had craniosynostosis verified by radiographic imaging. Control infants (n=4,094) consisted of a random sample of live births with no major birth defects from the same population as the case infants. Information on thyroid disease was based on self-report: mothers who reported either a thyroid disorder or use of a medication to treat a thyroid disorder during pregnancy were considered to have thyroid disease. Using an unconditional logistic regression model, we considered potential confounding factors (maternal age, race or ethnicity, smoking, body mass index, preexisting diabetes, plurality, gravidity, family history, infant sex).
Among case mothers, 19 (4.4%) were classified as having thyroid disease, compared with 65 (1.6%) of control mothers. Maternal thyroid disease was associated with craniosynostosis after controlling for maternal age (adjusted odds ratio 2.47, 95% confidence interval 1.46-4.18), the only factor that remained significant in the final model.
These data provide additional evidence that maternal thyroid disease (most likely Graves' disease) or its treatment is associated with craniosynostosis. Given the frequency of maternal thyroid disease, this association warrants further investigation.
"First, we examined the association of maternal thyroid disease with craniosynostosis, given that our previous analysis of this study question only included data on births through 2002 [Rasmussen et al., 2007]. The current analysis was adjusted only for maternal age, as was done for the previous study. "
"Delays in neuropsychological development have been reported for 15e62% of patients (Oi and Matsumoto, 1987; Sidoti et al., 1996; Aryan et al., 2005; Engel et al., 2012). The aetiology of metopic synostosis remains unknown (Engel et al., 2012; van der Meulen, 2012), but it is often ascribed to either an intrinsic malformation of the frontal bones (Lajeunie et al., 1998; Rasmussen et al., 2007; Wilkie et al. 2007; Senarath-Yapa et al. 2012) fetal head constraints in the pelvic area during pregnancy (Graham and Smith, 1980; Smartt et al., 2005) or to a malformation of the frontal lobes leading to a reduction of stimuli for cranial growth (Moss, 1959; Senarath-Yapa et al. 2012). Surgical intervention is warranted in order to increase the volume of the underdeveloped anterior cranial fossa as well as to improve aesthetics (Panchal and Uttchin, 2003; Forrest and Hopper, 2013). "
[Show abstract][Hide abstract] ABSTRACT: Fronto-supraorbital bar advancement in the treatment for trigonocephaly is associated with extensive intraoperative blood loss and compensatory erythrocyte transfusions. Since both are related to the length of surgery, efforts have been focused on optimizing preoperative preparations. The utilization of three-dimensional skull models in surgical planning allows for familiarization with the patient's anatomy, the optimization of osteotomies, the preparation of bone grafts and the selection of fixation plates.
Journal of Cranio-Maxillofacial Surgery 09/2014; 42(6). DOI:10.1016/j.jcms.2014.01.017 · 2.93 Impact Factor
"The Center for Disease Control National Birth Defects Prevention Study (CDC NBDPS) has identified maternal thyroid disease as a risk factor for craniosynostosis with an adjusted odds ratio of 2.47 . Craniosynostosis is a pathological condition in which premature fusion of one or more of the calvarial sutures occurs before the cessation of brain growth. "
[Show abstract][Hide abstract] ABSTRACT: The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes. At present, very little is known about the role of gene-environment interactions in modulating craniosynostosis phenotypes, but prior evidence suggests a role for endocrine factors. Here we provide a report of the effects of thyroid hormone exposure on murine calvaria cells. Murine derived calvaria cells were exposed to critical doses of pharmaceutical thyroxine and analyzed after 3 and 7 days of treatment. Endpoint assays were designed to determine the effects of the hormone exposure on markers of osteogenesis and included, proliferation assay, quantitative ALP activity assay, targeted qPCR for mRNA expression of Runx2, Alp, Ocn, and Twist1, genechip array for 28,853 targets, and targeted osteogenic microarray with qPCR confirmations. Exposure to thyroxine stimulated the cells to express ALP in a dose dependent manner. There were no patterns of difference observed for proliferation. Targeted RNA expression data confirmed expression increases for Alp and Ocn at 7 days in culture. The genechip array suggests substantive expression differences for 46 gene targets and the targeted osteogenesis microarray indicated 23 targets with substantive differences. 11 gene targets were chosen for qPCR confirmation because of their known association with bone or craniosynostosis (Col2a1, Dmp1, Fgf1, 2, Igf1, Mmp9, Phex, Tnf, Htra1, Por, and Dcn). We confirmed substantive increases in mRNA for Phex, FGF1, 2, Tnf, Dmp1, Htra1, Por, Igf1 and Mmp9, and substantive decreases for Dcn. It appears thyroid hormone may exert its effects through increasing osteogenesis. Targets isolated suggest a possible interaction for those gene products associated with calvarial suture growth and homeostasis as well as craniosynostosis.
PLoS ONE 07/2013; 8(7):e69067. DOI:10.1371/journal.pone.0069067 · 3.23 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.