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congenital cranial dysinnervation disorders

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https://www.readbyqxmd.com/read/29643789/alternating-hypotropia-with-pseudoptosis-a-new-phenotype-of-congenital-cranial-dysinnervation-disorder
#1
Fady Sedarous, Toby Y B Chan, Inas Makar
Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29325381/-longterm-surgery-outcome-of-m%C3%A3-bius-syndrome
#2
J Cen, X L Kang, J Yu, L Y Dong, Y Wei, K X Zhao
Objective: To investigate clinical features and the long-term surgery results of Möbius syndrome patients. Methods: This investigation presents a retrospective study of Möbius syndrome in 7 children we found since 2009. All 7 patients had MRI scan, ocular alignment in primary position, the limitation of versions and ductions and forced duction under general anesthesia. Early surgery is done to the 7 esotropia children. The pre-operative and post-operative outcomes, including the ocular alignment, deviation measurements and ocular rotations, were evaluated and compared...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29107795/gustatory-lid-retraction-an-unusual-congenital-cranial-dysinnervation-disorder
#3
Arif O Khan, Zabila Khan
Congenital cranial dysinnervation disorders are developmental abnormalities of cranial nerves that often include abnormal synkinesis. Among the most common ophthalmic congenital cranial dysinnervation disorders are Duane retraction syndrome and the Marcus-Gunn jaw-winking phenomenon. This report documents gustatory lid retraction as an unusual congenital cranial dysinnervation.
December 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29062251/a-congenital-cranial-dysinnervation-disorder-m%C3%A3-bius-syndrome
#4
Hatice Mutlu Albayrak, Nuriye Tarakçı, Hüseyin Altunhan, Rahmi Örs, Hüseyin Çaksen
Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Involvement of other cranial nerves such as three, four, five, nine, 9 and 12, and limb malformations may accompany this syndrome...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29018747/pearls-and-pitfalls-in-the-management-of-duane-syndrome
#5
REVIEW
Seyhan B Özkan
Duane syndrome (DS) is a common form of congenital cranial dysinnervation disorders. The ocular motility pattern lies in a wide clinical spectrum, and the choice of treatment must be individualized depending on the severity of the clinical findings. There is no perfect method of treatment and no real "cure" in DS. In this paper, the aim is to give some guidelines to the reader for selection of the most appropriate treatment method for the patient.
January 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29016863/a-tubb6-mutation-is-associated-with-autosomal-dominant-non-progressive-congenital-facial-palsy-bilateral-ptosis-and-velopharyngeal-dysfunction
#6
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Ruth Lang-Roth, Gudrun Nürnberg, Michaela Thoenes, Jutta Becker, Janine Altmüller, Alexander E Volk, Christian Kubisch, Raoul Heller
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28904220/congenital-cranial-dysinnervation-disorders-a-literature-review
#7
REVIEW
Rebecca Fels
Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain...
January 2017: American Orthoptic Journal
https://www.readbyqxmd.com/read/28878610/a-novel-loss-of-function-mutation-in-hoxb1-associated-with-autosomal-recessive-hereditary-congenital-facial-palsy-in-a-large-iranian-family
#8
Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Seyed M Kalantar, Mojtaba Jaafarinia, John Chilton, Mohammadreza Dehghani
Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have been identified in 5 unrelated families (12 patients) with HCFP worldwide. In this study, a large Iranian consanguineous kindred with 5 members affected by HCFP underwent thorough clinical and genetic evaluation...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28841851/combined-brown-syndrome-and-superior-oblique-palsy-without-a-trochlear-nerve-case-report
#9
Hee Kyung Yang, Jae Hyoung Kim, Ji-Soo Kim, Jeong-Min Hwang
BACKGROUND: Congenital Brown syndrome is characterized by limited elevation particularly during adduction. The pathogenesis of congenital Brown syndrome is still controversial. CASE PRESENTATION: A 6-year-old boy had been tilting his head to the left since infancy. He showed right hypertropia (RHT) of 2 prism diopters (Δ) in the primary position. He showed RHT 6Δ in right gaze, RHT 2Δ in left gaze, RHT 12Δ in right head tilt, and orthotropia in left head tilt...
August 25, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28534340/imaging-of-cranial-nerves-iii-iv-vi-in-congenital-cranial-dysinnervation-disorders
#10
REVIEW
Jae Hyoung Kim, Jeong Min Hwang
Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence...
June 2017: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/28459979/ocular-congenital-cranial-dysinnervation-disorders-ccdds-insights-into-axon-growth-and-guidance
#11
REVIEW
Mary C Whitman, Elizabeth C Engle
Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability...
August 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28345573/clinical-correlation-of-imaging-findings-in-congenital-cranial-dysinnervation-disorders-involving-abducens-nerve
#12
Chanchal Gupta, Pradeep Sharma, Rohit Saxena, Ajay Garg, Sanjay Sharma
PURPOSE: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus in congenital cranial dysinnervation disorders which are Duane's retraction syndrome (DRS) and Mobius syndrome. MATERIALS AND METHODS: Morphological analysis by 3T MRI of orbit (using surface coils) and brain (using 32 channel head coil) was performed on 6 patients with clinical DRS (1 bilateral), 2 cases with Mobius syndrome, and 1 case with congenital sixth nerve palsy...
February 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28033651/axons-get-ahead-insights-into-axon-guidance-and-congenital-cranial-dysinnervation-disorders
#13
REVIEW
John K Chilton, Sarah Guthrie
Cranial nerves innervate head muscles in a well-characterized and highly conserved pattern. Identification of genes responsible for human congenital disorders of these nerves, combined with the analysis of their role in axonal development in animal models, has advanced understanding of how neuromuscular connectivity is established. Here, we focus on the ocular motor system, as an instructive example of the success of this approach in unravelling the aetiology of human strabismus. The discovery that ocular motility disorders can arise from mutations in transcription factors, including HoxA1, HoxB1, MafB, Phox2A, and Sall4, has revealed gene regulatory networks that pattern the brainstem and/or govern the differentiation of cranial motor neurons...
July 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/27965142/duane-syndrome-with%C3%A2-prominent-oculo-auricular-phenomenon
#14
Aubrey L Gilbert, David G Hunter
Duane syndrome is a congenital cranial dysinnervation disorder involving absent or anomalous innervation of the lateral and medial rectus muscles that is sometimes associated with other manifestations of dysinnervation. We describe a patient with right esotropic Duane syndrome with a long-standing retroauricular tugging sensation in right gaze who was noted to have prominent ipsilateral oculo-auricular phenomenon, representing either abnormal enhancement of existing innervation or an uncommon dysinnervation...
April 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27837354/congenital-cranial-dysinnervation-disorders
#15
REVIEW
Anupam Singh, P K Pandey, Ajai Agrawal, Sanjeev Kumar Mittal, Kartik Maheshbhai Rana, Chirag Bahuguna
The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility...
December 2017: International Ophthalmology
https://www.readbyqxmd.com/read/27658539/the-genetics-of-nonsyndromic-bilateral-duane-retraction-syndrome
#16
Khaled K Abu-Amero, Arif O Khan, Darren T Oystreck, Altaf A Kondkar, Thomas M Bosley
PURPOSE: To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane retraction syndrome (bilateral nsDRS). METHODS: The medical records of 12 patients with bilateral nsDRS were reviewed. Genes associated with DRS and associated congenital cranial dysinnervation disorders (SALL4, CHN1, HOXA1, TUBB3, and KIF21A) were sequenced in the standard fashion in each patient. Array comparative genomic hybridization (array CGH) was performed using Affymetrix Cytogenetics Whole-Genome 2...
September 20, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27640920/a-novel-homozygous-hoxb1-mutation-in-a-turkish-family-with-hereditary-congenital-facial-paresis
#17
Yavuz Sahin, Olcay Güngör, Akif Ayaz, Gülay Güngör, Bedia Sahin, Kursad Yaykasli, Serdar Ceylaner
Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene...
February 2017: Brain & Development
https://www.readbyqxmd.com/read/27380983/congenital-third-nerve-palsy-with-synergistic-depression-on-attempted-adduction-and-trigemino-oculomotor-synkinesis-underpinnings-of-a-spectral-dysinnervation-disorder
#18
Pramod Kumar Pandey, Vishaal Bhambhwani, P C Ranjith, Mandar Kadav, C Aparnaa
The authors describe a case of congenital partial pupil-sparing third cranial nerve palsy with absent adduction, synergistic depression of globe and widening of palpebral fissure on attempted adduction and synergistic elevation and adduction on mouth opening and sideways thrusting of jaw. The case illustrates trigemino-oculomotor synkinesis associated with congenital third nerve palsy. The possible mechanism of miswiring involving the medial longitudinal fasciculus and trigeminal nuclei is discussed. At least some cases of congenital third cranial nerve palsy may fall in the realm of congenital cranial dysinnervation disorders (CCDDs) sharing a much wider spectrum of presentation...
May 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27317499/extraocular-muscle-dysinnervation-disorder-resembling-duane-retraction-syndrome-in-a-9-month-old-french-bulldog
#19
Lorenzo Mari, Benjamin T Blacklock, Renata Stavinohova, Luisa De Risio
A 9-month-old French Bulldog was presented with a chronic history of lateral strabismus and intermittent third eyelid protrusion in the left eye. The neuro-ophthalmological examination revealed mild ptosis of the left upper eyelid, mild lateral strabismus, and external ophthalmoparesis of the left eye. Retraction and ventral deviation of the left eye globe with protrusion of the third eyelid and elevation of the upper eyelid were elicited on attempted voluntary adduction of the left eye. Hematology, serum biochemistry, serology for infectious diseases, magnetic resonance of the head, and cerebrospinal fluid analysis did not reveal significant abnormalities...
September 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27144914/homozygous-hoxb1-loss-of-function-mutation-in-a-large-family-with-hereditary-congenital-facial-paresis
#20
Markus Vogel, Eunike Velleuer, Leon F Schmidt-Jiménez, Ertan Mayatepek, Arndt Borkhardt, Malik Alawi, Kerstin Kutsche, Fanny Kortüm
Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the isolated dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Möbius syndrome shares facial palsy with HCFP, but is additionally characterized by limited abduction of the eye(s). Genetic heterogeneity has been documented for HCFP as one locus mapped to chromosome 3q21-q22 (HCFP1) and a second to 10q21.3-q22.1 (HCFP2)...
July 2016: American Journal of Medical Genetics. Part A
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