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

Lajeunie, E; Crimmins, Darach; Arnaud, Éric; Rénier, Dominique

doi:10.3171/ped.2005.103.4.0353

Cited by 47 publications

(49 citation statements)

References 25 publications

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“…Varying abnormalities of chromosomes 3q, 7p, 10p, 11q, 15q, and 22q have also been reported [Kini et al, 2010]. Other causal factors are prenatal exposure to valproate [Lajeunie et al, 2001;Kini et al, 2010], fetal or neonatal hyperthyroidism [Azimi et al, 2003], rickets [Lajeunie et al, 1998], multiple pregnancies [Lajeunie et al, 2005], and intrauterine head compression [Hunenko et al, 2001]. The hypothesis of multifactorial inheritance is also supported by a low recurrence rate of 3.2% [Jehee et al, 2005].…”

Section: Discussionmentioning

confidence: 62%

A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature

Aypar¹,

Yıldırım

Sert³

et al. 2011

American J of Med Genetics Pt A

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Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postaxial polydactyly of both hands and feet and congenital heart defect. Cytogenetic analysis demonstrated trisomy 13 mosaicism; 46,XX[58]/47,XX,+13[42]. Although MS has been previously reported in complete and partial forms of trisomy 13, it has not been reported in mosaic form of trisomy 13. Our report supports the evidence that trisomy 13 causes MS. It also emphasizes the need for cytogenetic investigations in patients presenting with MS and multiple congenital anomalies for providing accurate diagnosis, genetic counseling, and prenatal diagnosis.

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Section: Discussionmentioning

confidence: 62%

A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature

Aypar¹,

Yıldırım

Sert³

et al. 2011

American J of Med Genetics Pt A

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“…The relationship between paternal age and occurrence of craniosynostosis has not been shown [15]. Most of the previous studies have reported craniosynostosis, especially sagittal and metopic synostosis, to occur more often among boys [19,20,21,22,23]. Some studies found a relationship between the risk of craniosynostosis and the use of infertility treatment such as clomiphene citrate [1,24].…”

Section: Introductionmentioning

confidence: 99%

Risk Factors Associated with Craniosynostosis: A Case Control Study

et al. 2012

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Background: Craniosynostosis is a relatively common congenital abnormality. The underlying etiology and most probable risk factors of nonsyndromic craniosynostosis are unknown. We conducted a study to identify the risk factors for craniosynostosis. Materials and Methods: In this case-control project, 70 children with craniosynostosis (syndromic or nonsyndromic) hospitalized at the Children's Hospital Medical Center from September 2010 to 2011 were studied for the potential risk factors. At the same time, 70 age- and sex-matched children hospitalized with other congenital anomalies were reviewed. Information from case and control groups was obtained via personal interviews with parents of patients and a prepared checklist was filled out for each child. Results: The mean (±SE) age at admission time in the case-control group was 13 ± 1.95 (1.5-96) months, and almost half of them were boys (n = 37 or 53%). The most frequent sutures involved in craniosynostosis were coronal (n = 30 or 42.9%) and then metopic sutures (n = 16 or 22.9%), multiple (n = 12 or 17.1%), sagittal (n = 11 or 15.7%) and lambdoid (n = 1 or 1.4%). In the case group, maternal diabetes mellitus and thyroid disease were found in 8 (11.6%) and 6 (8.6%) patients, respectively. The most frequent medication used by mothers (n = 66 or 94%) in the case group during pregnancy were vitamins (including iron supplements, omega 3, folic acid and multivitamins). Conclusion: A positive family history of craniosynostosis [odds ratio (OR) 19.01 and 95% confidence interval (CI) 2.24-160.7] and using clomiphene citrate for infertility (OR 12.71 and 95% CI 1.42-113.6) were the strongest independent risk factors for craniosynostosis. More comprehensive studies with a larger sample size are required to confirm the role of environmental factors in order to decrease the occurrence of craniosynostosis.

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“…Research to understand the genetic and environmental basis for CS development found higher risk in twins, in males, in infants with birth weight greater than 4 kg, and in births with a maternal age of 35 years and older [1,3,10]. If only one suture is affected, excessive growth will occur in the direction of the closed suture with subsequent skull deformity and cosmetic problems.…”

Section: Discussionmentioning

confidence: 95%

Effectiveness of ultrasonographic evaluation of the cranial sutures in children with suspected craniosynostosis

et al. 2008

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Computed tomography (CT) is the 'gold standard' for evaluation of the cranial sutures. While prenatal cranial suture evaluation with ultrasound (US) is common, US has not been established as a postnatal screening tool. We evaluated the effectiveness of US for diagnosis of craniosynostosis (CS). During 2006, 24 infants with questionable CS were assessed with US of the sagittal, metopic, and bilateral coronal and lambdoid sutures. US findings and clinical records were reviewed retrospectively. Sixteen boys and eight girls (ages 1-11 months, mean 4.3) underwent US. The correct diagnosis was provided in 23 (95%), with equivocal findings in one patient. Cranial sutures appeared normal in 15 infants, who had normal clinical presentation at mean 5.8 months follow-up; CT confirmation was obtained in two. In eight children, US identified premature closure of one or more cranial sutures. Three-dimensional CT was performed as a preparation for surgery in four, with classical CS findings. In one case with inconclusive US findings, CT showed narrow but open sutures. Sonographic examination of cranial sutures may serve as a first imaging tool for evaluation of craniosynostosis. CT may be reserved for children with abnormal or equivocal ultrasound and for preoperative planning.

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

Cited by 47 publications

References 25 publications

A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature

A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature

Risk Factors Associated with Craniosynostosis: A Case Control Study

Effectiveness of ultrasonographic evaluation of the cranial sutures in children with suspected craniosynostosis

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