Literature DB >> 9450889

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients.

E Lajeunie1, M Le Merrer, D Marchac, D Renier.   

Abstract

From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996, 237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis was estimated in the order of 1 in 15,000 children. Family information was obtained from 184 propositi from 179 families. The male-to-female ratio was 3.3:1. There was no maternal or paternal age effect. A family history was obtained in 10 of the 179 families, giving a 5.6% figure of familial cases. The frequency of twinning was 7.8% with two concordances for metopic synostosis in two monozygotic twin pairs. The male-to-female ratio, the twinning frequency, and the proportion of familial cases in trigonocephaly are very similar to those observed in scaphocephaly, which also involves the longitudinal sutural system. Fetal exposure to valproic acid was noticed in eight cases. The series was divided into two groups: nonsyndromal trigonocephaly (n = 184) and trigonocephaly associated with other malformations (n = 53). The second group included 13 cases of well-delineated syndromes and 40 cases of trigonocephaly associated with one or more malformations, but without any known syndrome, that could be undelineated syndromes. These groups differed significantly in their mental prognosis.

Entities:  

Mesh:

Substances:

Year:  1998        PMID: 9450889     DOI: 10.1002/(sici)1096-8628(19980113)75:2<211::aid-ajmg19>3.0.co;2-s

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  28 in total

1.  Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Authors:  Andrew O M Wilkie; Jo C Byren; Jane A Hurst; Jayaratnam Jayamohan; David Johnson; Samantha J L Knight; Tracy Lester; Peter G Richards; Stephen R F Twigg; Steven A Wall
Journal:  Pediatrics       Date:  2010-07-19       Impact factor: 7.124

2.  Little evidence of association between severity of trigonocephaly and cognitive development in infants with single-suture metopic synostosis.

Authors:  Jacqueline R Starr; H Jill Lin; Salvador Ruiz-Correa; Michael L Cunningham; Richard G Ellenbogen; Brent R Collett; Kathleen A Kapp-Simon; Matthew L Speltz
Journal:  Neurosurgery       Date:  2010-08       Impact factor: 4.654

3.  Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis.

Authors:  Irene M J Mathijssen
Journal:  J Craniofac Surg       Date:  2015-09       Impact factor: 1.046

4.  Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.

Authors:  Yann Heuzé; Neus Martínez-Abadías; Jennifer M Stella; Craig W Senders; Simeon A Boyadjiev; Lun-Jou Lo; Joan T Richtsmeier
Journal:  J Exp Zool B Mol Dev Evol       Date:  2012-03       Impact factor: 2.656

Review 5.  Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification.

Authors:  Camilla Bernardini; Marta Barba; Gianpiero Tamburrini; Luca Massimi; Concezio Di Rocco; Fabrizio Michetti; Wanda Lattanzi
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

6.  Craniosynostosis.

Authors:  David Johnson; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

7.  Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Authors:  Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

8.  Endoscope-assisted repair of metopic synostosis.

Authors:  Yusuf Erşahin
Journal:  Childs Nerv Syst       Date:  2013-10-03       Impact factor: 1.475

9.  Focus session on the changing "epidemiology" of craniosynostosis (comparing two quinquennia: 1985-1989 and 2003-2007) and its impact on the daily clinical practice: a review from Necker Enfants Malades.

Authors:  Federico Di Rocco; Eric Arnaud; Philippe Meyer; Christian Sainte-Rose; Dominique Renier
Journal:  Childs Nerv Syst       Date:  2009-04-09       Impact factor: 1.475

10.  Clinical and neuroradiological features of the 9p deletion syndrome.

Authors:  Peter Spazzapan; Eric Arnaud; Genevieve Baujat; Mathilde Nizon; Valerie Malan; Francis Brunelle; Federico Di Rocco
Journal:  Childs Nerv Syst       Date:  2015-11-23       Impact factor: 1.475

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.