Literature DB >> 11449786

Syndromes involving craniosynostosis and midface hypoplasia.

J T Katzen1, J G McCarthy.   

Abstract

This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's, Crouzon's, Saethre-Chotzen, and Carpenter's. Clinical characteristics and genetic defects are discussed. A general approach to surgical management is outlined.

Entities:  

Mesh：

Year:  2000        PMID： 11449786     DOI： 10.1016/s0030-6665(05)70280-2

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN： 0030-6665            Impact factor:   3.346


  9 in total

1.  Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly.

Authors:  Reza Assadsangabi; Mehrdad Hajmomenian; Larissa T Bilaniuk; Arastoo Vossough
Journal:  Childs Nerv Syst       Date:  2015-02-17       Impact factor: 1.475

2.  Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images.

Authors:  Mohamed Adel; Tetsutaro Yamaguchi; Daisuke Tomita; Yong-Il Kim; Masahiro Takahashi; Takatoshi Nakawaki; Yu Hikita; Shugo Haga; Mohamed Nadim; Akira Kawaguchi; Mutsumi Isa; Walid El-Kenany; Abbadi A El-Kadi; Soo-Byung Park; Hajime Ishida; Koutaro Maki; Ryosuke Kimura
Journal:  J Hum Genet       Date:  2018-06-05       Impact factor: 3.172

3.  Acrocephalosyndactyly Type 1 (Apert Syndrome): A Case Report.

Authors:  Vruti Chavda; Aishani Shah; Dixit Chaudhari
Journal:  Indian Dermatol Online J       Date:  2021-11-22

4.  Visual outcomes and amblyogenic risk factors in craniosynostotic syndromes: a review of 141 cases.

Authors:  S H Khan; K K Nischal; F Dean; R D Hayward; J Walker
Journal:  Br J Ophthalmol       Date:  2003-08       Impact factor: 4.638

Review 5.  Facial Suture Pathology in Syndromic Craniosynostosis: Human and Animal Studies.

Authors:  Maxwell M Wang; Christos S Haveles; Brian K Zukotynski; Russell R Reid; Justine C Lee
Journal:  Ann Plast Surg       Date:  2021-11-01       Impact factor: 1.539

6.  Apert syndrome: A case report and review of the literature.

Authors:  Tuba Tulay Koca
Journal:  North Clin Istanb       Date:  2016-05-14

7.  Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report.

Authors:  Gabrielle R O'Dougherty; Daniel H Fulkerson; Melissa Kern; Kasturi Haldar; Barbara Calhoun
Journal:  Am J Case Rep       Date:  2019-08-08

Review 8.  Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis.

Authors:  Parinaz Rostamzad; Zehra F Arslan; Irene M J Mathijssen; Maarten J Koudstaal; Mieke M Pleumeekers; Sarah L Versnel; Sjoukje E Loudon
Journal:  J Clin Med       Date:  2022-02-18       Impact factor: 4.241

9.  The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

Authors:  So-Hee Eun; Ki Ssu Ha; Bo-Kyung Je; Eung Seok Lee; Byung Min Choi; Jung Hwa Lee; Baik-Lin Eun; Kee Hwan Yoo
Journal:  J Korean Med Sci       Date:  2007-04       Impact factor: 2.153
  9 in total

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