Literature DB >> 2282717

Autosomal dominant craniosynostosis of the sutura metopica.

R C Hennekam1, M J Van den Boogaard.   

Abstract

Trigonocephaly due to craniosynostosis of the sutura metopica was found in two sibs with normal intelligence. Both were microcephalic. The father had a sloping forehead and possibly partial metopic craniosynostosis. The paternal grandfather had a bony ridge at the upper half of the metopic suture without significant head deformity. A paternal sister was possibly also affected. None of the affected persons showed significant other anomalies. Craniosynostosis of the metopic suture may be an autosomal dominantly inherited disorder, not associated with functional brain or other abnormalities.

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Year:  1990        PMID: 2282717     DOI: 10.1111/j.1399-0004.1990.tb03598.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

Review 1.  Consensus: trigonocephaly.

Authors:  H Collmann; N Sörensen; J Krauss
Journal:  Childs Nerv Syst       Date:  1996-11       Impact factor: 1.475

2.  Autosomal dominant holocalvarial craniosynostosis.

Authors:  G Pillar; M Zaaroor; R Gershoni-Baruch
Journal:  Childs Nerv Syst       Date:  1995-11       Impact factor: 1.475

Review 3.  Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

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

4.  A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.

Authors:  J Wagstaff; M Hemann
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

Review 5.  Metopic synostosis.

Authors:  Jacques van der Meulen
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

6.  Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.

Authors:  Craig B Birgfeld; Carrie L Heike; Babette S Saltzman; Anne V Hing
Journal:  Plast Reconstr Surg Glob Open       Date:  2013-11-07
  6 in total

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