Universität zu Köln

Rachwalski, M., Wollnik, B. and Kress, W. (2013). Clinical course and genetics of syndromic and non-syndromic craniosynostosis. Med. Genet., 25 (3). S. 373 - 386. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Full text not available from this repository.

Abstract

With an incidence of 1:2000-1:3000 births, craniosynostoses are among the most common craniofacial anomalies. Growth inhibition caused by premature fusion of one or more cranial sutures can lead to severe deformities of the skull and facial skeleton. Besides the severe aesthetic problems for the patient, it also has important clinical consequences. These may include raised intracranial pressure, optic nerve atrophy, respiratory, and developmental disorders. Despite major efforts, causative genes (e.g., FGFR1-3, TWIST1) have been detected for only a portion of the autosomal dominantly inherited craniosynostosis syndromes. The etiology of non-syndromic craniosynostosis still remains unclear. The application of next generation sequencing technologies will probably lead to the identification of additional causative genes underlying at the least syndromic forms of craniosynostosis in upcoming years. Due to their clinical complexity, particularly the syndromic forms of craniosynostosis require interdisciplinary care. The only treatment option currently available is craniofacial surgery, which in the long term often fails to remedy the genetically determined pathological growth pattern of complex syndromic craniosynostoses.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rachwalski, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kress, W. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-476310
DOI:	10.1007/s11825-013-0412-x
Journal or Publication Title:	Med. Genet.
Volume:	25
Number:	3
Page Range:	S. 373 - 386
Date:	2013
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CROUZON-SYNDROME; BIRTH PREVALENCE; MUTATIONS; FGFR2; INHIBITION; PATHWAYS; FEATURES; MIDFACE; HUMANS Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47631