Literature DB >> 17304383

Apert syndrome with septum pellucidum agenesis.

A Tiwari1, A Agrawal, A Pratap, R Lakshmi, R Narad.   

Abstract

Apert syndrome is characterised by craniosynostosis, associated with maxillary hypoplasia, symmetrical syndactyly of the hands and feet, and other systemic malformations including mental retardation. Apert syndrome and septo-optic dysplasia is rarely described. We describe the classical clinical and radiological findings of this syndrome in a 20-year-old woman. Though early surgical intervention is imperative for optimal outcome, in developing countries, it may not be possible to intervene at the right time due to financial constraints.

Entities:  

Mesh:

Year:  2007        PMID: 17304383

Source DB:  PubMed          Journal:  Singapore Med J        ISSN: 0037-5675            Impact factor:   1.858


  4 in total

Review 1.  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

2.  Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia.

Authors:  Takahiro Fukuyama; Takeshi Sato; Satsuki Nakano; Kentaro Tomita; Yoshiaki Sakamoto; Tomoru Miwa; Junpei Hamada; Natsuko Futagawa; Kosei Hasegawa; Tomohiro Ishii; Tomonobu Hasegawa
Journal:  Clin Pediatr Endocrinol       Date:  2021-11-01

Review 3.  Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.

Authors:  Nisreen Mohammed Al-Namnam; Soher Nagi Jayash; Firdaus Hariri; Zainal Ariff Abdul Rahman; Mohammed Abdullah Alshawsh
Journal:  Gene Ther       Date:  2021-02-22       Impact factor: 5.250

4.  Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome.

Authors:  Bong Kuen Cha; Dong Soon Choi; In San Jang; Hyun Tae Yook; Seung Youp Lee; Sang Shin Lee; Suk Keun Lee
Journal:  Maxillofac Plast Reconstr Surg       Date:  2018-12-12
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.