Literature DB >> 21720410

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).

A A Assaf1.   

Abstract

Congenital loss of innervation to the extra-ocular muscles (EOMs) can have a profound effect on the target muscle. This has been well recognised in Duane's retraction syndrome. However, it has been less emphasised in other congenital oculo-motor disorders. Such congenital ocular motor defects have been expanded to include DRS, congenital fibrosis of EOMs, monocular elevation defect, Möbius syndrome, as well as several other non-ocular muscles supplied by cranial nerves such as facial muscles. Such loss of innervation to motor muscles can be unified as a defined clinical entity, which can be labelled as congenital innervation dysgenesis syndrome or CID for short. CID may also affect other muscles supplied by nerves other than the cranial nerves and may be sensory as well as motor.

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Mesh:

Year:  2011        PMID: 21720410      PMCID: PMC3194333          DOI: 10.1038/eye.2011.38

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN: 0950-222X            Impact factor:   3.775


  75 in total

1.  Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

Authors:  Max A Tischfield; Thomas M Bosley; Mustafa A M Salih; Ibrahim A Alorainy; Emin C Sener; Michael J Nester; Darren T Oystreck; Wai-Man Chan; Caroline Andrews; Robert P Erickson; Elizabeth C Engle
Journal:  Nat Genet       Date:  2005-09-11       Impact factor: 38.330

2.  Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.

Authors:  Joseph L Demer; Robert A Clark; Key-Hwan Lim; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-01       Impact factor: 4.799

3.  Magnetic resonance imaging demonstrates neuropathology in congenital inferior division oculomotor palsy.

Authors:  Tzu-en J Wu; Sherwin J Isenberg; Joseph L Demer
Journal:  J AAPOS       Date:  2006-09-07       Impact factor: 1.220

Review 4.  Genetic basis of congenital strabismus.

Authors:  Elizabeth C Engle
Journal:  Arch Ophthalmol       Date:  2007-02

5.  Congenital cranial dysinnervation disorders and more.

Authors:  Elias I Traboulsi
Journal:  J AAPOS       Date:  2007-06       Impact factor: 1.220

6.  Usefulness of MR imaging in children without characteristic clinical findings of Duane's retraction syndrome.

Authors:  Jae Hyoung Kim; Jeong-Min Hwang
Journal:  AJNR Am J Neuroradiol       Date:  2005-04       Impact factor: 3.825

7.  High-resolution magnetic resonance imaging of the extraocular muscles and nerves demonstrates various etiologies of third nerve palsy.

Authors:  Hui-Chuan Kau; Chieh-Chih Tsai; Maria C Ortube; Joseph L Demer
Journal:  Am J Ophthalmol       Date:  2006-11-27       Impact factor: 5.258

8.  Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging.

Authors:  Jae Hyoung Kim; Jeong-Min Hwang
Journal:  Ophthalmology       Date:  2005-04       Impact factor: 12.079

9.  Comparison of orbital magnetic resonance imaging in duane syndrome and abducens palsy.

Authors:  Nam-Yeo Kang; Joseph L Demer
Journal:  Am J Ophthalmol       Date:  2006-09-20       Impact factor: 5.258

10.  Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

Authors:  Key Hwan Lim; Elizabeth C Engle; Joseph L Demer
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-04       Impact factor: 4.799

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  11 in total

1.  A Novel Co-occurrence of Jaw-Winking Ptosis and Duane-Like Synkinesis in Möbius Sequence.

Authors:  Nirupama Kasturi
Journal:  Indian J Pediatr       Date:  2015-04-18       Impact factor: 1.967

Review 2.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

Review 3.  Fourth cranial nerve palsy and Brown syndrome: two interrelated congenital cranial dysinnervation disorders?

Authors:  Pierre-François Kaeser; Michael C Brodsky
Journal:  Curr Neurol Neurosci Rep       Date:  2013-06       Impact factor: 5.081

Review 4.  Progressive External Ophthalmoplegia.

Authors:  Collin McClelland; Georgios Manousakis; Michael S Lee
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

5.  Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.

Authors:  Wen Miao; Fengyuan Man; Shaoqin Wu; Bin Lv; Zhenchang Wang; Junfang Xian; Bernhard A Sabel; Huiguang He; Yonghong Jiao
Journal:  PLoS One       Date:  2015-07-17       Impact factor: 3.240

6.  De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Authors:  Laura Tomas-Roca; Anastasia Tsaalbi-Shtylik; Jacob G Jansen; Manvendra K Singh; Jonathan A Epstein; Umut Altunoglu; Harriette Verzijl; Laura Soria; Ellen van Beusekom; Tony Roscioli; Zafar Iqbal; Christian Gilissen; Alexander Hoischen; Arjan P M de Brouwer; Corrie Erasmus; Dirk Schubert; Han Brunner; Antonio Pérez Aytés; Faustino Marin; Pilar Aroca; Hülya Kayserili; Arturo Carta; Niels de Wind; George W Padberg; Hans van Bokhoven
Journal:  Nat Commun       Date:  2015-06-12       Impact factor: 14.919

7.  Clinical correlation of imaging findings in congenital cranial dysinnervation disorders involving abducens nerve.

Authors:  Chanchal Gupta; Pradeep Sharma; Rohit Saxena; Ajay Garg; Sanjay Sharma
Journal:  Indian J Ophthalmol       Date:  2017-02       Impact factor: 1.848

Review 8.  Duane retraction syndrome: causes, effects and management strategies.

Authors:  Ramesh Kekunnaya; Mithila Negalur
Journal:  Clin Ophthalmol       Date:  2017-10-30

9.  Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.

Authors:  Gang Liu; Xue Chen; Xiantao Sun; Hu Liu; Kanxing Zhao; Qinglin Chang; Xinyuan Pan; Xiuying Wang; Songtao Yuan; Qinghuai Liu; Chen Zhao
Journal:  Mol Vis       Date:  2014-01-06       Impact factor: 2.367

10.  Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.

Authors:  Fady Sedarous; Toby Y B Chan; Inas Makar
Journal:  Case Rep Ophthalmol       Date:  2018-02-01
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