Duane Retraction Syndrome
Chimerin 1
Localization of a gene for Duane retraction syndrome to chromosome 2q31. (1/58)
Duane retraction syndrome (DRS) is a congenital eye-movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, restricted adduction, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. DRS has a prevalence of approximately 0.1% in the general population and accounts for 5% of all strabismus cases. Undiagnosed DRS in children can lead to amblyopia, a permanent uncorrectable loss of vision. A large family with autosomal dominant DRS was examined and tested for genetic linkage. After exclusion of candidate regions previously associated with DRS, a genomewide search with highly polymorphic microsatellite markers was performed, and significant evidence for linkage was obtained at chromosome 2q31 (D2S2314 maximum LOD score 11.73 at maximum recombination fraction. 0). Haplotype analysis places the affected gene in a 17.8-cM region between the markers D2S2330 and D2S364. No recombinants were seen with markers between these two loci. The linked region contains the homeobox D gene cluster. Three of the genes within this cluster, known to participate in hindbrain development, were sequenced in affected and control individuals. Coding sequences for these genes were normal or had genetic alterations unlikely to be responsible for the DRS phenotype. Identifying the gene responsible for DRS may lead to an improved understanding of early cranial-nerve development. (+info)A case of congenital inverse Duane's retraction syndrome. (2/58)
Inverse Duane's retraction syndrome is very uncommon. Congenital cases are even more unusual. A 6-year-old girl with convergent squint along with severe restriction on abduction is described. On attempted abduction, a narrowing of the palpebral fissure, upshoot and retraction of the eyeball were observed. Brain and orbit MRI demonstrated no intracranial or intraorbital mass, fracture, or entrapment of the medial rectus. Forced duction test was strongly positive. The primary lesion was found to be a tight medial rectus with shortening and soft tissue contracture. Surgical tenotomy of the medial rectus led to successful postoperative motility, but some limitation at full adduction and abduction persisted. This is a case reported with congenital medial rectus shortening, suggesting that this condition may be one of the etiologies of the rare inverse Duane's retraction syndrome. (+info)Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb. (3/58)
Duane syndrome (MIM 126800) is an autosomal dominant disorder characterised by primary strabismus and other ocular anomalies, associated with variable deficiency of binocular sight. We have recently identified a < 3 cM smallest region of deletion overlap (SRO) by comparing interstitial deletions at band 8q13 in two patients (one described by Vincent et al, 1994, and the other by Calabrese et al, 1998). Here we report on another patient with Duane syndrome carrying a reciprocal translation t(6;8)(q26;q13). FISH and PCR analyses using a YAC contig spanning the SRO narrowed the Duane region to a < 1 cM interval between markers SHGC37325 and W14901. In addition, the identification and mapping of two PAC clones flanking the translocation breakpoint, allowed us to further narrow the critical region to about 40 kb. As part of these mapping studies, we have also refined the map position of AMYB, a putative candidate gene, to 8q13, centromeric to Duane locus. AMYB is expressed in brain cortex and genital crests and has been previously mapped to 8q22. (+info)Increased binocular enhancement of contrast sensitivity and reduced stereoacuity in Duane syndrome. (4/58)
PURPOSE: To compare the binocular enhancement of contrast sensitivity and stereoacuity in patients with Duane syndrome and normal subjects. METHODS: Monocular and binocular contrast sensitivity functions were determined using a two-alternative, forced-choice method in 14 patients with Duane syndrome and 14 normal subjects. Monocular and binocular log minimum angle of resolution (logMAR) acuities were measured, and stereoacuity was determined using the Titmus and TNO stereotests. RESULTS: In the patients with Duane syndrome, the binocular enhancement of contrast sensitivity was increased across all spatial frequencies, although stereoacuity was reduced compared to that of the normal subjects. The increased enhancement was caused by a reduction in monocular contrast sensitivity rather than an increase in binocular contrast sensitivity. The patients with Duane syndrome also showed a generalized reduction of contrast sensitivity at high spatial frequencies. CONCLUSIONS: It is suggested that the combination of reduced stereoacuity and increased binocular enhancement of contrast sensitivity seen in Duane syndrome can be explained by a partial loss of binocular cortical cells, caused by intermittent misalignment of the eyes during early visual development. (+info)Reduced binocular beat visual evoked responses and stereoacuity in patients with Duane syndrome. (5/58)
PURPOSE: To study the effects that the abnormal eye movements of patients with Duane retraction syndrome have on the development of binocular function. METHODS: Pattern reversal visual evoked responses (VEPs) to 15-minutes-of-arc and 60-minutes-of-arc checks and binocular beat VEPs to diffuse sinusoidally modulated 18- and 20-Hz stimuli were recorded in 10 patients with Duane retraction syndrome who maintain binocular function by using an abnormal head posture. Visual acuity, stereoacuity, and eye movements were measured. The results have been compared to those from 10 normal subjects. RESULTS: The patients with Duane retraction syndrome had reduced stereoacuity compared to the normal control group (TNO mean, 82.5 seconds of arc compared to 37.5 seconds of arc; Titmus mean, 143 seconds of arc compared to 44 seconds of arc). The binocular beat VEPs showed a significantly reduced difference beat response at 2 Hz in the patients with Duane syndrome compared to normal subjects (mean signal-to-noise ratio 2.40 +/- 1.05 compared to 4.30 +/- 2.66; t = 2.21, df = 18, P < 0.05). Binocular enhancement of the P100 pattern reversal amplitude to 15-minute checks was increased in these patients, because of a reduction of the monocular P100 amplitudes compared to the normal group. CONCLUSIONS: Patients with Duane syndrome who maintain binocular function using an abnormal head posture have reduced stereoacuity and show electrophysiological evidence of reduced cortical binocular interaction. (+info)Okihiro syndrome is caused by SALL4 mutations. (6/58)
Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mutation of the TBX5 locus and Townes-Brocks syndrome, known to be caused by mutations in the SALL1 gene. Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes-Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family. We have characterized the human SALL4 gene on chromosome 20q13.13-q13.2. Moreover, we have identified literature reports of forelimb malformations in patients with cytogenetically identifiable abnormalities of this region. We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype. (+info)Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. (7/58)
Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS). We ascertained three pedigrees with DRRS and mapped their disease gene to a 21.6-cM region of chromosome 20 flanked by markers D20S888 and D20S102. A new member of the SAL family of proposed C(2)H(2) zinc finger transcription factors, SALL4, falls within the region. Mutation analysis of SALL4 in the three pedigrees revealed one nonsense and two frameshift heterozygous mutations. SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development. (+info)A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. (8/58)
PURPOSE: To identify the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS). The break point in chromosome arm 8q is positioned within the DURS1 critical region. METHODS: Fluorescence in situ hybridization (FISH) analysis using cosmid and BAC clones covering the DURS1 locus was performed to define the break point position and its relationship with expressed sequence tags (ESTs) in the region. Once the interrupted gene was identified, the full-length cDNA was sequenced and the genomic organization defined. Eighteen patients with sporadic DURS without cytogenetic abnormalities involving the DURS1 region were screened for point mutations in the candidate DURS1 gene. RESULTS: A carboxypeptidase gene (CPAH) was directly interrupted between the first and second exons in a patient with DURS who carried a de novo reciprocal balanced translocation t(6;8)(q26;q13) involving the DURS1 region on chromosome arm 8q13. The gene was transcribed in at least two alternative mRNA forms, with different start and stop codons. CONCLUSIONS: The CPAH gene was interrupted in a patient with DURS carrying a translocation break point in the DURS1 region on chromosome 8q13. CPAH is therefore a likely candidate for this abnormality, even if the possibility that other genes are involved, either by direct effects on transcription units present in the first CPAH intron or by position effects, cannot be ruled out. Functional studies of the influence of this gene on the morphogenesis of eye muscles and their innervation may clarify this question. (+info)Duane Retraction Syndrome (DRS) is a congenital eye movement disorder, characterized by limited abduction (lateral movement away from the nose) of the affected eye, and on attempted adduction (movement towards the nose), the eye retracts into the orbit and the lid narrows. It is often accompanied by other eye alignment or vision anomalies. The exact cause is not known, but it is believed to be a result of abnormal development of the cranial nerves that control eye movement during fetal development. DRS is usually idiopathic, but it can also be associated with other congenital anomalies. It is typically diagnosed in early childhood and managed with a combination of observation, prism glasses, and/or surgery, depending on the severity and impact on vision.
Chimerin 1 is a protein that in humans is encoded by the CHN1 gene. It belongs to a family of proteins known as Rac GTPase-activating proteins (RacGAPs), which are involved in regulating various cellular processes such as cell growth, division, and movement. Chimerin 1 specifically inhibits the activity of Rac GTPases, which are important regulators of the actin cytoskeleton and play a role in various signaling pathways.
Chimerin 1 contains several functional domains, including a CH domain, a RhoGAP domain, and a coiled-coil domain. The CH domain binds to calcium/calmodulin, allowing Chimerin 1 to be activated by calcium signaling. The RhoGAP domain is responsible for the GTPase-activating activity of Chimerin 1, which promotes the hydrolysis of GTP to GDP and inactivates Rac GTPases. The coiled-coil domain mediates protein-protein interactions and may be involved in targeting Chimerin 1 to specific cellular locations.
Mutations in the CHN1 gene have been associated with certain neurological disorders, including spinocerebellar ataxia type 36 (SCA36) and hereditary spastic paraplegia type 58 (SPG58). These mutations may affect the function of Chimerin 1 and lead to abnormalities in neuronal development and maintenance.
The oculomotor muscles are a group of extraocular muscles that control the movements of the eye. They include:
1. Superior rectus: This muscle is responsible for elevating the eye and helping with inward rotation (intorsion) when looking downwards.
2. Inferior rectus: It depresses the eye and helps with outward rotation (extorsion) when looking upwards.
3. Medial rectus: This muscle adducts, or moves, the eye towards the midline of the face.
4. Inferior oblique: The inferior oblique muscle intorts and elevates the eye.
5. Superior oblique: It extorts and depresses the eye.
These muscles work together to allow for smooth and precise movements of the eyes, enabling tasks such as tracking moving objects, reading, and maintaining visual fixation on a single point in space.
Duane syndrome
Hamida Saiduzzafar
Chimerin 1
Chimerin
Synkinesis
Carboxypeptidase A6
Alexander Duane
Prism correction
Hypertropia
List of MeSH codes (C11)
Duane-radial ray syndrome
List of OMIM disorder codes
SALL4
List of MeSH codes (C10)
List of MeSH codes (C16)
Brown's syndrome
Phacoemulsification
Bitches Ain't Shit
Transposition procedures in Duane retraction syndrome<...
Duane syndrome - Wikipedia
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome<...
Eye Movement Disorders | Nystagmus | Strabismus | MedlinePlus
Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging
Globe Retraction: Practice Essentials, Background, Pathophysiology
Strabismus - StatPearls - NCBI Bookshelf
Dr. Brian Campolattaro, MD, Ophthalmology Specialist - New York, NY | Sharecare
Duane syndrome
MR imaging of familial superior oblique hypoplasia | British Journal of Ophthalmology
CYTAG® CGH Labeling kit - ENZ-42671 - Enzo Life Sciences
Wyburn-Mason Syndrome: Background, Pathophysiology, Epidemiology
Why do I see double up close? Is this convergence insufficiency? - The Eye Center- Dr. Mahnaz Naveed Shah & Associates, Karachi
duane syndrome Archives - ROQUE Eye Clinic | Eye.com.ph
Matthew State | UCSF Profiles
Duane Syndrome: Background, Pathophysiology, Epidemiology
autosomal dominant | Hereditary Ocular Diseases
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Retraction of publication as topic. Medical search. Definitions
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Eyes (Ophthalmology) - Aneurin Bevan University Health Board
herenciageneticayenfermedad: Health Conditions - Genetics Home Reference: O | Published: January 24, 2017
CIENCIASMEDICASNEWS: Health Conditions - Genetics Home Reference: O
DUANE-RADIAL RAY SYNDROME; DRRS | MENDELIAN.CO
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Amedeo Smart
Adduction9
- Patients present with limited horizontal eye movement(s) and globe retraction with eyelid fissure narrowing on attempted adduction due to co-contraction of the lateral and medial rectus muscles in one or both eyes. (johnshopkins.edu)
- Retraction of the eyeball into the socket on adduction, with associated narrowing of the palpebral fissure (eye closing). (wikipedia.org)
- The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint (note-"squint" is a British term for two eyes not looking in the same direction) is in fact Duane syndrome. (wikipedia.org)
- Patients with Duane syndrome have strabismus, upshooting or downshooting eye movements, narrowing of palpebral fissure, and retraction of the globe on adduction. (medscape.com)
- [ 7 ] Type A corresponded to limited abduction and less limited adduction (as described originally by Duane). (medscape.com)
- The essential features are globe retraction upon adduction with narrowing of the lid fissure, and some limitation of abduction. (arizona.edu)
- A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. (lookformedical.com)
- Duane syndrome (DS) is typically characterized by abduction and/or adduction deficiency accompanied by eyelid and ocular motility disturbances. (oftalmoloji.org)
- 1,2 This syndrome is characterized by deficient abduction and/or adduction from birth, accompanied by globe retraction on attempted adduction, narrowing of the palpebral fissure, and exaggerated elevation/depression on adduction. (oftalmoloji.org)
Duane's6
- Other names for this condition include: Duane's retraction syndrome, eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome. (wikipedia.org)
- who reported on the autopsy findings of two patients with Duane's syndrome. (wikipedia.org)
- Fissure changes, and the other associated characteristics of Duane's such as up or down shoots and globe retraction, are also vital when deciding whether any abduction limitation is the result of Duane's and not a consequence of VI or abducens cranial nerve palsy. (wikipedia.org)
- Acquired Duane's syndrome is a rare event occurring after peripheral nerve palsy. (wikipedia.org)
- Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. (elsevierpure.com)
- Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome . (arizona.edu)
Strabismus3
- Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. (wikipedia.org)
- This is a congenital and non-progressive strabismus syndrome. (arizona.edu)
- Duane syndrome (DS) is a special type of strabismus that has been recently classified among the congenital cranial dysinnervation disorders (CCDDs) and is encountered in 1-5% of patients with strabismus. (oftalmoloji.org)
Abnormalities4
- While usually isolated to the eye abnormalities, Duane syndrome can be associated with other problems including cervical spine abnormalities Klippel-Feil syndrome, Goldenhar syndrome, heterochromia, and congenital deafness. (wikipedia.org)
- Drrs Is also known as dr syndrome, acrorenoocular syndrome, duane anomaly with radial ray abnormalities and deafness, okihiro syndrome. (mendelian.co)
- Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. (nih.gov)
- A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. (bvsalud.org)
Palpebral1
- The choice of surgical procedure in esotropic-DRS depends upon several factors that include: the amount of esotropia in the primary position, the presence and severity of palpebral fissure narrowing, globe retraction, presence of medial rectus muscle (MR) contracture, the likelihood of improving abduction, age of the patient, and the presence of binocularity and stereopsis. (bvsalud.org)
Congenital cranial dysinnervation3
- Duane retraction syndrome, or Duane syndrome (DS), is one of several congenital cranial dysinnervation disorders. (johnshopkins.edu)
- Duane retraction syndrome is a congenital cranial dysinnervation disorder that may occur in isolation, or with other congenital anomalies. (eye.com.ph)
- Duane retraction syndrome (DRS) is a complex congenital cranial dysinnervation disorder. (bvsalud.org)
Goldenhar2
- It is also seen as part of other syndromes such as Goldenhar ( 164210 ), and Wildervanck ( 314600 ). (arizona.edu)
- We report the modified Nishida's procedure combined with medial rectus muscle recession for the treatment of esotropia in unilateral Duane syndrome associated with Goldenhar syndrome. (bvsalud.org)
Anomaly1
- Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. (bvsalud.org)
Ptosis1
- This syndrome was initially reported in a 15-year-old girl as unilateral ptosis associated with the upper eyelid contraction on the same side. (capsulehealth.one)
Abducens6
- To demonstrate that currently available magnetic resonance imaging techniques may verify the absence of the abducens nerve in Duane syndrome. (nih.gov)
- We performed magnetic resonance imaging in a 36-year-old woman with left Duane syndrome, type 1, using spoiled gradient recalled acquisition in the steady state to obtain high-resolution T1-weighted images through the abducens nerve in its subarachnoid segment. (nih.gov)
- The absence of the abducens nerve in Duane syndrome can be verified by modern magnetic resonance imaging techniques. (nih.gov)
- Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). (qxmd.com)
- The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. (qxmd.com)
- Plication augmentation of the modified Hummelsheim procedure for treatment of large-angle esotropia due to abducens nerve palsy and type 1 Duane syndrome. (omeka.net)
Cranial1
- Mechanism for globe retraction in Duane retraction syndrome is believed to be anomalous innervation of lateral rectus muscles from branches of oculomotor nerve (cranial nerve III). (medscape.com)
Acro-renal-ocular syndrome2
- The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome. (mendelian.co)
- The Acro-Renal-Ocular Syndrome (AROS) is one of the phenotypes associated with mutations in SALL4. (medicalalgorithms.com)
Extraocular muscles1
- Co-contraction of extraocular muscles due to synkinesis or aberrant firing can lead to retraction on a congenital or acquired basis. (medscape.com)
Eyeball2
- Often, when the eye moves toward the nose, the eyeball also pulls into the socket (ie, retraction), and the eye opening narrows. (medscape.com)
- There's no cure for Duane syndrome, but surgery can be used to try to improve or eliminate issues with head turns, reduce or completely remove considerable misalignment of the eyes, reduce severe retraction of the eyeball, and improve the tendency of the eye to deviate upward or downward with particular eye movements. (jacanswers.com)
Okihiro1
- Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. (mendelian.co)
Autosomal dominant2
- Duane syndrome 1 described here follows an autosomal dominant pattern. (arizona.edu)
- Individuals having Duane Retraction Syndrome 2 (DURS2) ( 604356 ) are often found in autosomal dominant pedigrees also. (arizona.edu)
Clinically1
- Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. (arizona.edu)
Enophthalmos2
- The silent sinus syndrome can also present with enophthalmos. (medscape.com)
- Patient with metastatic breast carcinoma to the intraconal space of the right orbit resulting in mild globe retraction and enophthalmos. (medscape.com)
Findings3
- This view is supported by the earlier work of Hotchkiss et al [5] who reported on the autopsy findings of two patients with Duanes syndrome. (bionity.com)
- Matsuo T, Yanai H, Sugiu K, Tominaga S, Kimata Y. Orbital exenteration after transarterial embolization in a patient with Wyburn-Mason syndrome: pathological findings. (medscape.com)
- PURPOSE: To evaluate the clinical findings of different types of Duane retraction syndrome (DRS). STUDY DESIGN: Retrospective. (bvsalud.org)
Paresis1
- Athabascan Brainstem Dysgenesis Syndrome (ABDS) is a very rare genetic syndrome affecting the brainstem of the central nervous system that consists of congenital horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and other variable features that can include facial paresis. (eyewiki.org)
Abduction1
- The characteristic features of the syndrome are: Limitation of abduction (outward movement) of the affected eye. (wikipedia.org)
19051
- The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. (wikipedia.org)
Brainstem dysgenesis syndrome1
- Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. (nih.gov)
Characteristics1
- A so-called "Down syndrome cat" typically manifests some distinctive characteristics, including: Broad noses. (jacanswers.com)
Disorder10
- Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to turn out. (bionity.com)
- Wyburn-Mason syndrome is a congenital, nonhereditary, sporadic disorder without sexual or racial predilection. (medscape.com)
- Wyburn-Mason syndrome is a congenital disorder. (medscape.com)
- Duane Retraction Syndrome (DRS) is a rare eye movement disorder that affects the muscles responsible. (eyeclinic-karachi.com)
- Dr. State's lab has played a leading role in demonstrating the contribution of rare and de novo variation to autism spectrum disorders (ASD), Tourette disorder (TD), and brain malformation syndromes. (ucsf.edu)
- Duane syndrome (DS) is a rare, congenital disorder of eye movement. (medscape.com)
- At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. (arizona.edu)
- Wyburn-Mason syndrome is considered to be a congenital, nonhereditary, sporadic disorder and without sexual or racial predilection. (medscape.com)
- Cortnum SO, Sorensen P, Andresen J. Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder. (medscape.com)
- Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. (jacanswers.com)
Incidence4
- Wyburn-Mason syndrome is rare, and the precise incidence and prevalence are poorly defined. (medscape.com)
- The worldwide incidence of Wyburn-Mason syndrome is also rare. (medscape.com)
- Wyburn-Mason syndrome is very uncommon, with incidence and prevalence rates that remain poorly defined. (medscape.com)
- The worldwide incidence of Wyburn-Mason syndrome is also rare but ill defined. (medscape.com)
Tumors1
- Noncancerous tumors that can cause Cushing syndrome include: Adrenal adenomas, a common tumor that rarely makes excess cortisol. (jacanswers.com)
Malformation3
- Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. (medscape.com)
- Schmidt D. [Congenital retinocephalic facial vascular malformation syndrome. (medscape.com)
- Ponce FA, Han PP, Spetzler RF, Canady A, Feiz-Erfan I. Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. (medscape.com)
Characteristic features1
- however, this was ultimately found to be a distinct syndrome with characteristic features such as sensorineural deafness, horizontal gaze palsy and central hypoventilation not seen in typical Möbius syndrome. (eyewiki.org)
Palsy1
- PURPOSE: To evaluate the effect of half tendon vertical rectus muscle transposition (HVRT) combined with medial rectus muscle recession (MRrec) in complete sixth nerve palsy (CSNP) and esotropic Duane Retraction Syndrome (eDRS). (bvsalud.org)
Sensorineural deafness1
- Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome ( OMIM ), caused by mutation in the TBX5 gene ( OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects ( Kohlhase, 2003 ). (mendelian.co)
Unilateral1
- Wyburn-Mason syndrome is usually unilateral and often asymptomatic. (medscape.com)
Idiopathic2
- A similar mechanism can cause globe retraction in sclerosing idiopathic orbital inflammation (pseudotumor). (medscape.com)
- Pseudotumor cerebri (also known as idiopathic intracranial hypertension) is a syndrome of increased intracranial pressure without a discernable cause. (aetna.com)
Mutations1
- Duane Retraction Syndrome (DURS3) ( 617041 ) patients with mutations in MAFB may have sensorineural hearing loss. (arizona.edu)
Aberrant1
- This is a heterogeneous group of syndromes resulting from aberrant wiring of motor nerves in the head muscles [ 6 , 26 ], and not from malformations of the eye itself. (biomedcentral.com)
Wildervanck1
- El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. (bvsalud.org)
Clinical2
- Eagle's syndrome: embryology, anatomy, and clinical management. (nih.gov)
- Based on clinical manifestations and genetic test results, proband 1 was diagnosed with multiple lentigines Noonan syndrome, and probands 2 and 3 were diagnosed with Noonan syndrome. (bvsalud.org)
Globe11
- Globe retraction may result from neurogenic, myogenic, or mechanical etiologies. (medscape.com)
- Globe retraction occurs when the globe is displaced deeper within the orbit from its normal position. (medscape.com)
- There are many causes of globe retraction. (medscape.com)
- Globe retraction also can be seen in metastatic scirrhous breast carcinoma from cicatrization of orbital tissue. (medscape.com)
- A thorough history and examination are required to determine appropriate management for patients with globe retraction. (medscape.com)
- Globe retraction results from either enlargement of orbital cavity after blowout fracture or prolapse of orbital tissue into adjacent sinus. (medscape.com)
- Orbital fat atrophy or contraction of an entrapped extraocular muscle also can cause globe retraction after orbital blowout fractures. (medscape.com)
- [ 13 ] Most common orbital metastasis to cause globe retraction is scirrhous breast carcinoma (82%), although it also has been reported with lung , gastrointestinal , and prostate carcinomas . (medscape.com)
- The cause of globe retraction is cicatrization with contraction of myofibroblasts in orbital tissue. (medscape.com)
- EMG studies have documented simultaneous activation of the two muscles which likely accounts for at least some of the globe retraction. (arizona.edu)
- In the presence of MR contracture, MR recession is performed either alone (unilaterally or bilaterally) or in conjunction with Y splitting plus recession of the lateral rectus muscle (LR) for reducing globe retraction. (bvsalud.org)
Sequence1
- Duane retraction syndrome (sequence analysis of SALL4 gene). (mendelian.co)
Facial2
- Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome or retinoencephalofacial angiomatosis, is a rare nonhereditary congenital phakomatosis characterized by arteriovenous malformations (AVMs) of the retina, brain, and, in some cases, facial skin. (medscape.com)
- Los hallazgos anatomopatológicos son variables e incluyen aplasia nuclear en el tronco encefálico, aplasia del nervio facial y aplasia de los músculos faciales, en línea con la etiología multifactorial. (bvsalud.org)
Radial2
- Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome ( 607323 ). (arizona.edu)
- Duane-radial ray syndrome (deletion/duplication analysis on SALL4 gene). (mendelian.co)
Patients5
- [ 2 ] Both electromyographic and autopsy studies in Duane syndrome patients have demonstrated this anomalous innervation. (medscape.com)
- Few patients with the syndrome complain of diplopia when their eyes are misaligned. (bionity.com)
- Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
- In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS). (qxmd.com)
- Early Computed Tomography Coronary Angiography and Preventative Treatment in Patients with Suspected Acute Coronary Syndrome A secondary analysis of the RAPID-CTCA trial. (amedeo.com)
Absence1
- In the absence of other anomalies, it is called isolated Duane syndrome. (arizona.edu)
Contraction3
- Thus, co-contraction of the muscles takes place, limiting the amount of movement achievable and also resulting in retraction of the eye into the socket. (wikipedia.org)
- It may result from active co-contraction of the horizontal rectus muscles such as in Duane retraction syndrome. (medscape.com)
- Retraction of a clot resulting from contraction of PLATELET pseudopods attached to FIBRIN strands. (lookformedical.com)
Fetal2
- Do fetal alcohol syndrome have tremor? (jacanswers.com)
- How much alcohol is necessary to cause fetal alcohol syndrome? (jacanswers.com)
18961
- Sinclair (in 1895), Bahr (in 1896), Stilling (in 1887), Turk (in 1899), and Wolff (in 1900) first described Duane retraction syndrome (DRS). (medscape.com)