Literature DB >> 25633065

The congenital cranial dysinnervation disorders.

N J Gutowski1, J K Chilton2.   

Abstract

Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Entities:  

Keywords:  Genetics; Neurodevelopment; Neurology; Neuromuscular; Ophthalmology

Mesh:

Year:  2015        PMID: 25633065     DOI: 10.1136/archdischild-2014-307035

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  9 in total

1.  Neuroimaging Findings in Moebius Sequence.

Authors:  D A Herrera; N O Ruge; M M Florez; S A Vargas; M Ochoa-Escudero; M Castillo
Journal:  AJNR Am J Neuroradiol       Date:  2019-04-04       Impact factor: 3.825

2.  Möbius syndrome: clinico-radiologic correlation.

Authors:  Namju Kim; Jae Hyoung Kim; Ji-Soo Kim; Jeong-Min Hwang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-08-01       Impact factor: 3.117

3.  Association of lateral rectus muscle volume and ocular motility with the abducens nerve in Duane's retraction syndrome.

Authors:  Hee Kyung Yang; Jounghan Kim; Dae-Seung Lee; Jeong-Min Hwang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2020-08-21       Impact factor: 3.117

4.  Surgical management of pediatric patients with congenital fibrosis of the extraocular muscles.

Authors:  Yoichi Okita; Akiko Kimura; Mana Okamoto; Osamu Mimura; Fumi Gomi
Journal:  Jpn J Ophthalmol       Date:  2019-12-17       Impact factor: 2.447

5.  A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Authors:  Mohammad Yahya Vahidi Mehrjardi; Reza Maroofian; Seyed M Kalantar; Mojtaba Jaafarinia; John Chilton; Mohammadreza Dehghani
Journal:  Mol Syndromol       Date:  2017-06-28

6.  KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Authors:  Christiane Al-Haddad; Rose-Mary Boustany; Elza Rachid; Karine Ismail; Brenda Barry; Wai-Man Chan; Elizabeth Engle
Journal:  Ophthalmic Genet       Date:  2020-11-29       Impact factor: 1.803

7.  Moebius sequence: radiological approximations to molecular disturbances: an overview.

Authors:  Daniel José Palma-Martínez; Valentina Mejía-Quiñones; Ana María Granados-Sánchez
Journal:  Radiol Case Rep       Date:  2020-06-14

8.  The epidemiology of Moebius syndrome in Italy.

Authors:  Arturo Carta; Stefania Favilla; Giacomo Calzetti; Maria Cristina Casalini; Pier Francesco Ferrari; Bernardo Bianchi; Maria Beatrice Simonelli; Roberta Farci; Stefano Gandolfi; Paolo Mora
Journal:  Orphanet J Rare Dis       Date:  2021-04-07       Impact factor: 4.123

Review 9.  Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Authors:  P Pavone; Sung Yoon Cho; A D Praticò; R Falsaperla; M Ruggieri; Dong-Kyu Jin
Journal:  Medicine (Baltimore)       Date:  2018-09       Impact factor: 1.817

  9 in total

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