Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Marcus Gunn jaw winking synkinesis: report of two cases.

ABSTRACT: Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.

SUBMITTER: Carman KB

PROVIDER: S-EPMC3618604 | biostudies-other | 2013

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Marcus Gunn jaw winking synkinesis: report of two cases.

Carman Kursat Bora KB Ozkan Serhat S Yakut Ayten A Ekici Arzu A

BMJ case reports 20130123

Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS. ...[more]

PMID: 23345532

Similar Datasets

Neonatal diagnosis of Marcus Gunn jaw-winking syndrome.

Project description:This report highlights the importance for neonatologists/pediatricians of considering Marcus Gunn jaw-winking syndrome among differential diagnoses of ptosis. A detailed clinical assessment is crucial to promptly recognize and appropriately manage it.

| S-EPMC7869362 | biostudies-literature

Pathogenesis and characteristics of large ameloblastoma of the jaw: a report of two rare cases.

Project description:Ameloblastoma is a common odontogenic epithelial tumor that exhibits various biological behaviors, ranging from simple cystic expansion to aggressive solid masses characterized by local invasiveness, a high risk of recurrence, and even malignant transformation. We report on two cases of unusually large solid ameloblastomas. We detected epithelial-mesenchymal transition-related gene expression and HRAS gene single nucleotide polymorphisms, providing possible molecular evidence of mesenchymal morphological changes in ameloblastoma. The detailed analysis of the pathogenesis of these two cases of ameloblastoma may deepen our understanding of this rare disease and offer promising targets for future targeted therapy.

| S-EPMC8161878 | biostudies-literature

HYPOFIBRINOGENEMIA (A Report of Two Cases).

Project description:Hypofibrinogenemia is an uncommon bleeding disorder. Two siblings with mild bleeding diathesis were investigated and diagnosed as suffering from this disorder. The cases are discussed keeping in view of their rarity.

| S-EPMC5529752 | biostudies-other

Marcus Gunn Syndrome - A Rare Neural Misdirection Phenomenon Case Report.

Project description:RationaleThis case report describes the Marcus Gunn phenomenon (MGP), an infrequent type of congenital unwanted contractions of facial muscles that occurs in 4%-6% of patients with congenital ptosis. The defining characteristic of MGP is the affected eyelid lifting in a manner similar to the opening of the mouth.Patient concernsIt addresses a 45-year-old man who was examined in the dental clinic with a severely decayed tooth. He exhibited evidence of normal vision and synchronous movement of his lips and eyelid.DiagnosisThe conditions matched those of the autosomal dominant disorder with incomplete penetration, the MGP. The carious tooth was restored without the necessity for any surgical intervention.TreatmentThe patient was given appropriate dental treatment without any surgical intervention for Marcus Gunn Syndrome.OutcomeAfter receiving routine fillings to treat dental caries, the patient stopped complaining of pain.Take-away lessonThis case report reveals insight into a situation that has been speculated to be an example of neural redirection syndrome, in which impulses from the trigeminal nerve's motor unit are naturally redirected into the levator palpebrae superioris muscles of the upper eyelid and the superior pterygoid muscle.

| S-EPMC11340846 | biostudies-literature

Adult-onset woakes' syndrome: Report of two cases.

Project description:IntroductionWoakes' syndrome is a rare condition commonly defined as recurrent sinonasal polyposis with consecutive destruction of the nasal pyramid. Till now, only a few cases have been reported in the literature. The purpose of this paper is to present the features of woakes' syndrome through two new clinical cases, adding some valuable insight to the recently reported cases.Case reportWe report a series of two consecutive adults male and female patients, aged 55 and 58 years, with Samter's triad, who presented recurrent nasal polyposis and progressive broadening of the nasal dorsum. Facial CT showed in both patients the same radiologic pattern of nasal and paranasal cavities obliteration with nasal bone deformation. Both patients underwent functional endoscopic sinus surgery and correction of the bony nasal vault deformity without osteotomies. At 3 months follow-up, the nasal air passage remained free and aesthetic outcomes were observed.Discussionhaving been described over 130 years ago, the etiology of woakes' syndrome remains unclear. Treatment includes topical treatment and sinonasal surgery. Surgical treatment of the nasal dorsum deformity is rarely addressed.ConclusionThese observations suggest that the external nose deformity may be successfully corrected by digital compression, in combination with endoscopic sinus surgery.

| S-EPMC8377525 | biostudies-literature

Bicompartmental Decompressive Craniectomy: Report of Two Cases.

Project description:A recent study of randomized controlled trials showed favorable outcomes with use of decompressive craniectomy in managing and treating uncontrolled intracranial pressures accompanied with cerebral edema due to trauma. We present the details of bicompartmental decompressive craniectomy on two patients who presented with severe head trauma of supra- and infratentorial pathologies. The surgical management techniques and long-term follow-up are discussed in detail.

| S-EPMC5530624 | biostudies-other

WILSON'S DISEASE (A report of two cases).

Project description:Two cases of Wilson's disease are reported. First case presented with fulminant hepatic failure and had a fatal outcome. The second had an insiduous onset, neurological manifestations, and is progressing satisfactorily on zinc therapy. Problems in diagnosis and treatment are highlighted.

| S-EPMC5529699 | biostudies-other

Low-grade osteosarcoma is predominant in gnathic osteosarcomas: A report of seven cases of osteosarcoma of the jaw.

Project description:ObjectivePrimary osteosarcoma of the jaw bones is very rare, and histological features of gnathic osteosarcoma remain obscure. The purpose of this study was to describe the clinicopathological features of gnathic osteosarcoma.Materials and methodsSeven cases of gnathic osteosarcoma from Japan diagnosed during the period between 2000 and 2016 were examined retrospectively. The histology of the surgical pathology materials was reviewed by two pathologists. Clinical information was obtained from the hospital's information system.ResultsOf the seven cases, two patients had secondary osteosarcomas. As for the five cases of primary osteosarcoma, their ages ranged from 26 to 58 years (mean: 36.2, median: 28). Histologically, three cases were fibrotic tumors composed of spindle-shaped cells with mild to moderate nuclear atypia and the collagenous stroma accompanied by woven bones or mature lamellar-like bones. Two cases had cartilage formation. MDM2 and CDK4 expression was observed in two out of three cases on immunostaining. The histopathology of these three cases was regarded as the counterpart of low-grade osteosarcomas, namely, parosteal osteosarcoma and low-grade central osteosarcoma, arising in long bones.ConclusionsThe surprisingly high incidence (60%, 3/5 cases) of low-grade osteosarcoma explains the reason why gnathic osteosarcomas present a more favorable prognosis than osteosarcomas arising in long bones. Furthermore, it provides insight into the tumorigenesis mechanism of low-grade osteosarcomas arising in the jaw and other sites.

| S-EPMC8638322 | biostudies-literature

Amyloidosis cutis dyschromica in two female siblings: cases report.

Project description:BACKGROUND: Cutaneous amyloidosis has been classified into primary cutaneous amyloidosis (PCA, OMIM #105250), secondary cutaneous amyloidosis and systemic cutaneous amyloidosis. PCA is the deposition of amyloid in previously apparent normal skin without systemic involvement. Amyloidosis cutis dyschromica (ACD) is a rare distinct type of PCA. Here, the unique clinical and histological findings of two Chinese female siblings with ACD were described. CASES PRESENTATIONS: Patient 1 was a 34-year-old female, presented with mildly pruritic, diffuse mottled hyperpigmentation and hypopigmentation. The lesions involved all over the body since she was 10 years old. There were a few itchy blisters appearing on her arms, lower legs and truck, especially on the sun-exposed areas in summer. Some hypopigmented macules presented with slight atrophy. Patient 2 was 39-year-old, the elder sister of patient 1. She had similar skin lesions since the same age as the former. The atrophy and blisters on the skin of the patient with amyloidosis cutis dyschromica have not been described in previous literature. Histological examinations of the skin biopsies taken from both patients revealed amyloid deposits in the whole papillary dermis. Depending on the histological assessment, the two cases were diagnosed as amyloidosis cutis dyschromica. CONCLUSION: The two cases suggest that the atrophy and blisters may be the uncommon manifestations of amyloidosis cutis dyschromica. It alerts clinicians to consider the possibility of ACD when meeting patients with cutaneous dyschromia. Skin biopsy is essential and family consultation of genetic investigation is very important in such cases.

| S-EPMC3048549 | biostudies-literature

Pulmonary alveolar microlithiasis: A report of two unique cases.

Project description:Pulmonary alveolar microlithiasis (PAM) is an inherited autosomal recessive disease. PAM is classically characterized by calcium phosphate deposition within alveolar airspaces due to SLC34A2 (solute carrier family 34 member 2) gene mutation located on chromosome 4p15.2. Such cellular genetic mutation would lead to a defect in the sodium-phosphate transporter channel located in alveolar epithelial cells type-II. Ultimately, it would result in a malfunction of alveolar epithelial cells and the failure of these cells to clear-up the released phosphorous particles in the cellular surfactant recycling. PAM is usually diagnosed in adulthood, frequently notable in the third and fourth decades of life, occasionally can be associated with more severe clinical presentation and radiological findings. Nevertheless, the disease could manifest itself in the pediatric age group, which either shows non-specific signs and symptoms or be exclusively asymptomatic. Histopathological examination is the gold standard for the PAM diagnosis. Genetic counseling and testing might benefit the patient's family members. Herein, we present 2 cases of PAM in the pediatric age group, along with their clinical history, presentation, radiological studies, and histopathology findings, as well as a brief literature review.

| S-EPMC6928350 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data