Literature DB >> 27493407

Apert Syndrome: Late presentation and treatment challenges.

Abdelmoneim E M Kheir1, Ahlam A Hamed2, Wala M Maki3, Lina H M Hasan3.   

Abstract

Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of the hands and feet. Anomalies of the viscera, skeleton and cardiovascular system have also been reported… Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. Most cases are sporadic, resulting from new mutations with a paternal age effect. The prognosis of Apert Syndrome depends on the severity of brain malformation and early surgical interventions. We describe a Sudanese infant with Apert syndrome who presented for the first time at the age of three months and had limited options for intervention.

Entities:  

Keywords:  Apert Syndrome; Craniosynostosis; Infant; Sudan; Syndactyly

Year:  2014        PMID: 27493407      PMCID: PMC4949801          DOI: 10.1136/sjp-14-71

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN: 0256-4408


  12 in total

1.  What syndrome is this? Apert syndrome.

Authors:  C V DeGiovanni; C Jong; A Woollons
Journal:  Pediatr Dermatol       Date:  2007 Mar-Apr       Impact factor: 1.588

2.  Apert syndrome in a newborn infant without craniosynostosis.

Authors:  Sivaroopi Coomaralingam; Philip Roth
Journal:  J Craniofac Surg       Date:  2012-05       Impact factor: 1.046

3.  [Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].

Authors:  I Arroyo Carrera; M L Martínez-Frías; J J Marco Pérez; L Paisán Grisolía; A Cárdenes Rodríguez; C Nieto Conde; V Félix Rodríguez; J J Egüés Jimeno; M C Morales Fernández; J Gómez-Ullate Vergara; M Pardo Romero; A Peñas Valiente; M J Oliván del Cacho; A Lara Palma
Journal:  An Esp Pediatr       Date:  1999-12

4.  Case report: orthodontic and dentofacial orthopedic considerations in Apert's syndrome.

Authors:  R D Rynearson
Journal:  Angle Orthod       Date:  2000-06       Impact factor: 2.079

5.  Apert syndrome.

Authors:  Anatoli Freiman; Oren Tessler; Benjamin Barankin
Journal:  Int J Dermatol       Date:  2006-11       Impact factor: 2.736

6.  Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Authors:  Anne Goriely; Gilean A T McVean; Maria Röjmyr; Björn Ingemarsson; Andrew O M Wilkie
Journal:  Science       Date:  2003-08-01       Impact factor: 47.728

7.  Intraoral features of Apert's syndrome.

Authors:  Ariadne Letra; Ana Lúcia Pompéia Fraga de Almeida; Rosane Kaizer; Luis Augusto Esper; Silvia Sgarbosa; José Mauro Granjeiro
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod       Date:  2006-09-07

8.  Birth prevalence study of the Apert syndrome.

Authors:  M M Cohen; S Kreiborg; E J Lammer; J F Cordero; P Mastroiacovo; J D Erickson; P Roeper; M L Martínez-Frías
Journal:  Am J Med Genet       Date:  1992-03-01

9.  Oral features in Apert syndrome: a histological investigation.

Authors:  T L Surman; R M Logan; G C Townsend; P J Anderson
Journal:  Orthod Craniofac Res       Date:  2010-02       Impact factor: 1.826

Review 10.  Apert syndrome: review and report a case.

Authors:  Gleicy V S Carneiro; Jener G Farias; Fred A P Santos; Patrícia L Lamberti
Journal:  Braz J Otorhinolaryngol       Date:  2008 Jul-Aug
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