Craniosynostosis

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Craniosynostosis

The term craniosynostosis is understood as the premature ossification of one or more skull sutures , some of which already begins in the unborn child. The normal growth of the skull is not possible as a result, and a so-called compensatory growth occurs. This causes unusual skull shapes such as tower skulls or punt skulls . If multiple sutures are affected, surgical correction with cranioplasty is necessary to make room for the brain to grow. Today almost all affected children (approx. 1 in 2000 births) are operated on.

According to a 2011 study by University College London , the risk of skull malformations in a child is 33% higher if the mother smokes during pregnancy . Craniosynostoses are in some cases associated with one of the SMAD6 gene variations.

Craniosynostoses can also occur in the context of syndromes as so-called syndromic synostoses, such as Baller-Gerold syndrome , cranio-fronto-nasal dysplasia , Muenke syndrome , craniotelencephalic dysplasia , Ruvalcaba syndrome , Hunter-McAlpine Craniosynostosis , Beare-Stevenson-Cutis-Gyrata-Syndrome or Jackson-Weiss-Syndrome .

See also

Microcephalus , trigonocephalus , turricephalus , macrocephaly , scaphocephalus , dolichocephaly , plagiocephaly

Individual evidence

  1. ↑ rme / aerzteblatt.de: Tobacco smoke causes malformations. (No longer available online.) In: aerzteblatt.de . July 12, 2011, archived from the original on March 4, 2016 ; accessed on February 2, 2015 . Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. @1@ 2Template: Webachiv / IABot / www.aerzteblatt.de
  2. ↑ A. Hackshaw, C. Rodeck, S. Boniface: Maternal smoking in pregnancy and birth defects: a systematic review based on 173,687 malformed cases and 11.7 million controls. In: Human reproduction update. Volume 17, number 5, 2011 Sep-Oct, ISSN  1460-2369 , pp. 589-604, doi: 10.1093 / humupd / dmr022 , PMID 21747128 , PMC 3156888 (free full text) (review).
  3. ↑ Jong Eun Park, Jin Seok Park, Shin Yi Jang, Seok Hee Park, Jong-Won Kim: A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm . In: Molecular Genetics & Genomic Medicine . tape 0 , no. 0 , ISSN  2324-9269 , p. e620 , doi : 10.1002 / mgg3.620 ( wiley.com [accessed March 9, 2019]).
  4. ^ MM Cohen Jr: Craniosynostosis. Diagnosis, evaluation and management. Raven, New York 1986.

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