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Archivos Argentinos de Pediatria Jun 2023Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or...
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. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.
Topics: Humans; Klippel-Feil Syndrome; Duane Retraction Syndrome; Deafness; Abnormalities, Multiple
PubMed: 36413195
DOI: 10.5546/aap.2022-02624.eng -
Oman Journal of Ophthalmology 2022To describe the clinical profile and magnetic resonance imaging findings of the brain in Duane retraction syndrome (DRS) and determine whether there is an association...
PURPOSE
To describe the clinical profile and magnetic resonance imaging findings of the brain in Duane retraction syndrome (DRS) and determine whether there is an association between clinical presentation and magnetic resonance imaging (MRI) brain characteristics.
MATERIALS AND METHODS
This was a cross-sectional study done at a tertiary care center in South India. We recruited and analyzed the clinical characteristics of 54 patients with DRS. MRI of the brain with fast imaging employing steady-state acquisition (FIESTA) was performed in 41 cases, and the cisternal segment of the sixth nerve was studied. Statistical analysis was done to determine any association between the radiological and clinical features.
RESULTS
Type 1 DRS was predominant, followed by Type 3 DRS and Type 2 DRS. 9.3% of cases were bilateral and 11.1% were familial. Orthotropia was most common, followed by esotropia and exotropia. The MRI brain showed the absence of the cisternal part of the sixth nerve on the affected side in 82% of Type 1 and 75% of Type 3 unilateral DRS. Both the abducens nerves were visualized in 19.5% of the patients with unilateral DRS. There was no statistically significant association between MRI brain findings and the clinical features.
CONCLUSIONS
MRI brain with FIESTA shows absent or hypoplastic sixth nerve in most cases of Type 1 and Type 3 DRS. However, around 20% of DRS cases may show the presence of the cisternal part of the sixth nerve. Hence, clinicians must be cautious when ruling out DRS on the basis of MRI brain findings. Although aplasia of the sixth nerve is the most frequent MRI finding, it may not be the sole etiologic factor.
PubMed: 35937749
DOI: 10.4103/ojo.ojo_133_21 -
Oman Journal of Ophthalmology 2022
PubMed: 35937726
DOI: 10.4103/ojo.ojo_141_22 -
Indian Journal of Ophthalmology Jul 2022
Topics: Duane Retraction Syndrome; Eye Movements; Humans; Oculomotor Muscles
PubMed: 35791235
DOI: 10.4103/ijo.IJO_2821_21 -
Case Reports in Ophthalmology 2022Idiopathic intracranial hypertension (IIH) is a poorly understood condition, and its presentation can coexist with other diseases. Simultaneous IIH and Duane retraction...
Idiopathic intracranial hypertension (IIH) is a poorly understood condition, and its presentation can coexist with other diseases. Simultaneous IIH and Duane retraction syndrome (DRS) type 1 have never been reported to coexist in an adult patient. Herein, we report a 32-year-old obese female with a history of chronic renal failure who had a renal transplant rejection 6 years prior to presentation and was treated with oral steroids and immunosuppressive medications. She began to experience signs and symptoms of increased intracranial pressure (morning headache and binocular horizontal diplopia) and had limited abduction of one eye on examination. The case was later diagnosed as IIH with DRS type 1.
PubMed: 35702521
DOI: 10.1159/000524363 -
Saudi Journal of Ophthalmology :... 2021Consecutive exotropia is considered as a rare complication after medial rectus recession that is performed for cases of esotropic Duane syndrome. Here, we present a case...
Consecutive exotropia is considered as a rare complication after medial rectus recession that is performed for cases of esotropic Duane syndrome. Here, we present a case of 5-year-old female initially presented with the limitation of abduction, narrowing of the palpebral fissure, and globe retraction of the left eye along with a mild left face turn. She was diagnosed with Duane syndrome Type 1. She was treated with the medial rectus recession (6.5 mm). Postsurgery, she developed a consecutive exotropia. This was managed successfully with the ipsilateral lateral rectus recession (8 mm). Following this surgery, the patient was orthoptic in the primary position and her abnormal head posture was markedly improved.
PubMed: 35391814
DOI: 10.4103/1319-4534.337851 -
Molecular Medicine Reports Apr 2022Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations...
Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on the proband and his family to determine the biological pathogenesis. Clinical data were collected from the proband and his family and genomic DNA was extracted from peripheral blood. Whole exome sequencing was performed by high‑throughput sequencing and mutation sites of the proband and his parents were validated by Sanger sequencing. The proband was diagnosed with Okihiro syndrome, which is characterized by bone abnormality in the arms and hands (radial ray malformation, absence of thumbs) and sensorineural hearing loss. A pathogenic heterozygous c.3060delG variant was identified in exon 4 of spalt‑like transcription factor 4 () gene in the proband. This is a frameshift mutation that changes increases the length of SALL4 protein from 1,053 to 1,076 amino acids. The variant was classed as a mutation because the parents of the proband showed no variation at this site. This variant is not included in the ClinVar database and, to the best of our knowledge, has not previously been reported. The heterozygous c.3060delG variant was the molecular pathological cause of Okihiro syndrome in the present study and expanded the database of known variants.
Topics: China; Duane Retraction Syndrome; Heterozygote; Humans; Mutation; Pedigree; Transcription Factors
PubMed: 35179219
DOI: 10.3892/mmr.2022.12647 -
Journal of Current Ophthalmology 2021To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial... (Review)
Review
PURPOSE
To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial appearance.
METHODS
In this review article, PubMed, Scopus, and Google Scholar search engines were searched for the scientific articles and books published between 1975 and September 2020 based on the keywords of this article. The selected articles were collected, summarized, classified, evaluated, and finally concluded.
RESULTS
AHP can be caused by various ocular or nonocular diseases. The prevalence of ocular causes of AHP was reported to be 18%-25%. 1.1% of patients presenting to ophthalmology clinics has AHP. The first step in evaluating a patient with AHP is a correct differential diagnosis between nonocular and ocular sources by performing comprehensive eye examinations and ruling out other causes of orthopedic and neurological AHP. Ocular AHP occurs for a variety of reasons, the most important of which include nystagmus, superior oblique palsy, and Duane's retraction syndrome. AHP may be an essential clinical sign for an underlying disease, which can only be appropriately treated by the accurate determination of the cause. Long-standing AHP may lead to facial asymmetry and secondary muscular and skeletal changes.
CONCLUSION
In conclusion, a proper differential diagnosis between nonocular and ocular causes, knowledge of the different forms of AHP and their measurement methods, accurate diagnosis of the cause, and proper and timely treatment of ocular AHP can prevent facial asymmetry and secondary muscular and skeletal changes in the patients.
PubMed: 35128182
DOI: 10.4103/joco.joco_114_20 -
Clinical Ophthalmology (Auckland, N.Z.) 2022Various surgical approaches have been described for the management of Duane retraction syndrome (DRS), a type of congenital cranial dysinnervation disorder (CCDD), the... (Review)
Review
Various surgical approaches have been described for the management of Duane retraction syndrome (DRS), a type of congenital cranial dysinnervation disorder (CCDD), the goals of which include correcting the primary position deviation and abnormal head posture (AHP), minimizing globe retraction and overshoots and improving the ocular rotations. Vertical rectus transposition (VRT) is one such technique, found more effective in improving abduction and thereby expanding the field of binocular vision, as compared to horizontal muscle surgery. VRT, however, is associated with the risk of inducing vertical deviations and also poses a risk for development of anterior segment ischemia. To overcome these concerns, transposition of only the superior rectus to the lateral rectus was proposed and evaluated to reveal improvement in alignment, AHP and motility comparable to VRT but with lesser surgical time and fewer post-operative complications. With promising results in the management of DRS, superior rectus transposition (SRT) has been extensively studied and has evolved over the last decade with several modifications to further increase the efficiency and reduce the risk of post-operative complications. This article focusses on the pre-operative considerations while planning SRT in DRS, various approaches and surgical techniques described, and the outcomes and complications of SRT in DRS. The role of SRT in the management of other CCDDs may be explored with further studies.
PubMed: 35115760
DOI: 10.2147/OPTH.S284608 -
Genes Oct 2021Biallelic truncating variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI,...
Biallelic truncating variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in -ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the -related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of -related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.
Topics: Abnormalities, Multiple; Adolescent; Adult; Cerebellum; Ciliopathies; Consanguinity; Cytoskeletal Proteins; Duane Retraction Syndrome; Eye Abnormalities; Female; Humans; Kidney Diseases, Cystic; Male; Nervous System Malformations; Phenotype; Retina; Saudi Arabia; Siblings; Young Adult
PubMed: 34828254
DOI: 10.3390/genes12111648