Literature DB >> 8833300

A clinical study of the craniofacial features in Apert syndrome.

M M Cohen1, S Kreiborg.   

Abstract

A clinical study of the craniofacial features in Apert syndrome is based on our experience with 136 cases. Characteristics included hyperacrobrachycephaly, steep wide forehead, flat occiput, common craniofacial asymmetry, ocular hypertelorism and proptosis, downslanting palpebral fissures, divergent upgaze and esotropic downgaze, a tendency towards large ears, and marked depression of the nasal bridge. The nose is short and wide with a bulbous tip, and the anterior facial height is reduced. Common features during infancy included horizontal grooves above the supraorbital ridges that disappear with age, a break in the continuity of the eyebrows, and a trapezoidal-shaped mouth at rest. Radiographic aspects of Apert syndrome were also assessed. Tables are provided which compare the craniofacial features of Apert and Crouzon syndromes.

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Year:  1996        PMID: 8833300     DOI: 10.1016/s0901-5027(96)80011-7

Source DB:  PubMed          Journal:  Int J Oral Maxillofac Surg        ISSN: 0901-5027            Impact factor:   2.789


  22 in total

1.  Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.

Authors:  Greg Holmes; Claudio Basilico
Journal:  Dev Biol       Date:  2012-06-01       Impact factor: 3.582

2.  Ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) protein regulates osteoblast differentiation.

Authors:  Hwa Kyung Nam; Jin Liu; Yan Li; Andrew Kragor; Nan E Hatch
Journal:  J Biol Chem       Date:  2011-09-19       Impact factor: 5.157

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.  Atypical presentation of a newborn with Apert syndrome.

Authors:  B Spruijt; B F M Rijken; K F M Joosten; H H Bredero-Boelhouwer; B Pullens; M H Lequin; E B Wolvius; M L C van Veelen-Vincent; I M J Mathijssen
Journal:  Childs Nerv Syst       Date:  2014-11-30       Impact factor: 1.475

Review 5.  The molecular and cellular basis of Apert syndrome.

Authors:  Chao Liu; Yazhou Cui; Jing Luan; Xiaoyan Zhou; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2013-11

6.  Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report.

Authors:  Fulesh Kunwar; Shikha Tewari; Sonal R Bakshi
Journal:  J Oral Biol Craniofac Res       Date:  2016-07-13

Review 7.  Choanal Atresia and Craniosynostosis: Development and Disease.

Authors:  Kate M Lesciotto; Yann Heuzé; Ethylin Wang Jabs; Joseph M Bernstein; Joan T Richtsmeier
Journal:  Plast Reconstr Surg       Date:  2018-01       Impact factor: 4.730

8.  Central nervous system and cervical spine abnormalities in Apert syndrome.

Authors:  Omar Breik; Antony Mahindu; Mark H Moore; Cindy J Molloy; Stephen Santoreneos; David J David
Journal:  Childs Nerv Syst       Date:  2016-02-10       Impact factor: 1.475

9.  Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth.

Authors:  Neus Martínez-Abadías; Christopher Percival; Kristina Aldridge; Cheryl A Hill; Timothy Ryan; Satama Sirivunnabood; Yingli Wang; Ethylin Wang Jabs; Joan T Richtsmeier
Journal:  Dev Dyn       Date:  2010-11       Impact factor: 3.780

10.  Sutural growth restriction and modern human facial evolution: an experimental study in a pig model.

Authors:  Nathan E Holton; Robert G Franciscus; Mary Ann Nieves; Steven D Marshall; Steven B Reimer; Thomas E Southard; John C Keller; Scott D Maddux
Journal:  J Anat       Date:  2009-11-19       Impact factor: 2.610

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