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Ceska a Slovenska Oftalmologie :... 2018The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital - Faculty of Medicine,...
The authors present the ocular finding in a patient sent to the Department of Paediatric Ophthalmology at the Children's University Hospital - Faculty of Medicine, Comenius University in Bratislava at the age of 3 months, with congenital glaucoma in her right eye and bilateral high myopia. The family anamnesis of the patient shows repeated occurrence of stunted growth, myopia, facial dysmorphia and cataract. The child's mother had high myopia, the mother's brother underwent cataract surgery, the child's grandmother and her sisters and the child's great grandmother had high myopia and glaucoma, and probably underwent cataract surgery at a young age. The child's mother and grandmother underwent a genetic examination, with a conclusion of Marshall syndrome. Within the framework of neonatal screening, poor cortical auditory evoked potential, a defect of the interventricular septum and bifid uvula were diagnosed in the child. With regard to the overall finding in the patient and the genetic family history, we suspected Marshall syndrome. A genetic examination determined Stickler syndrome type 1 with the presence of mutation in the COL2A gene (variant c.2710C >T (p.Arg904Cys,rs121912882)). Due to high intraocular pressure with the impossibility of compensation by medication, bilateral trabuculectomy was performed on the patient. At present the patient has intraocular pressure compensated with adjuvant medicamentous therapy. With regard to high myopia and pronounced degenerative changes on the periphery of the retina in the sense of lattice degeneration, preventive cryopexy of the retinal periphery is planned. A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2. Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, cataract.
Topics: Arthritis; Connective Tissue Diseases; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Myopia; Pedigree; Retinal Detachment
PubMed: 30650974
DOI: 10.31348/2018/1/5-3-2018 -
Journal of Developmental Biology Aug 2020The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and...
The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and articular joint issues resulting from mutations in . Zebrafish carry two copies of the gene, designated and . is located on zebrafish chromosome 24 and is located on zebrafish chromosome 2. Expression patterns are distinct for and and is most similar to that is responsible for human autosomal chondrodystrophies and the gene responsible for changes in the chondrodystrophic mouse model . We investigated the function of in craniofacial and axial skeletal development in zebrafish using a knockdown approach. Knockdown revealed abnormalities in Meckel's cartilage, the otoliths, and overall body length. Similar phenotypes were observed using a CRISPR/Cas9 gene-editing approach, although the CRISPR/Cas9 effect was more severe compared to the transient effect of the antisense morpholino oligonucleotide treatment. The results of this study provide evidence that the zebrafish gene for is required for normal development and has similar functions to the mammalian gene. Due to its transparency, external fertilization, the knockdown, and knockout zebrafish model systems can, therefore, contribute to filling the gap in knowledge about early events during vertebrate skeletal development that are not as tenable in mammalian model systems and help us understand -related early developmental events.
PubMed: 32872105
DOI: 10.3390/jdb8030016 -
Rheumatology Advances in Practice 2023Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the...
OBJECTIVE
Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs.
METHODS
Patient data were collected retrospectively and analysed over a 13-year period.
RESULTS
Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported.
CONCLUSION
FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.
PubMed: 36685993
DOI: 10.1093/rap/rkad001 -
Journal of Medical Case Reports Aug 2017Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients.... (Review)
Review
BACKGROUND
Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome.
CASE PRESENTATION
A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, -2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (-1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp).
CONCLUSIONS
In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.
Topics: Arthritis; Cataract; Child; Child, Preschool; Cleft Palate; Collagen Type II; Collagen Type XI; Connective Tissue Diseases; Craniofacial Abnormalities; Diagnosis, Differential; Growth Disorders; Hearing Loss, Sensorineural; Humans; Male; Micrognathism; Mutation; Osteochondrodysplasias; Palate, Soft; Phenotype; Retinal Detachment
PubMed: 28841907
DOI: 10.1186/s13256-017-1396-y -
Journal of Developmental Biology Sep 2022The expression of the gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause...
The expression of the gene is essential for normal skeletal development, affecting both cartilage and bone. Loss of function mutations have been shown to cause abnormalities in the growth plate of long bones, as well as in craniofacial development. However, the specific effects on Meckel's cartilage have not been well studied. To further understand the effect of gene function, we analyzed the developing jaw in zebrafish using gene knockdown by the injection of an antisense morpholino oligonucleotide using transgenic Tg(sp7:EGFP) and Tg(Fli1a:EGFP) EGFP reporter fish, as well as wildtype AB zebrafish. Our results demonstrate that zebrafish knockdown impairs the cellular organization of Meckel's cartilage in the developing jaw and alters the bone formation that occurs adjacent to the Meckel's cartilage. These results suggest roles for Col11a1a protein in cartilage intermediates of bone development, the subsequent mineralization of the bony collar of long bones, and that which occurs adjacent to Meckel's cartilage in the developing jaw.
PubMed: 36278545
DOI: 10.3390/jdb10040040 -
Dermatologie (Heidelberg, Germany) Nov 2022A special form of the rare infantile Sweet syndrome (acute febrile neutrophilic dermatosis) is facultative healing in the form of postinflammatory elastolysis with...
A special form of the rare infantile Sweet syndrome (acute febrile neutrophilic dermatosis) is facultative healing in the form of postinflammatory elastolysis with acquired cutis laxa, named "Marshall" syndrome after the authors who first described it. We report the case of a 3-year-old child in whom the cutaneous manifestation led to diagnosis of Takayasu arteritis. Postinflammatory elastolysis with acquired cutis laxa is a clinically relevant cutaneous indicator of life-threatening cardiovascular complications such as aortitis, aortic aneurysm, coronary stenosis and heart failure in children with Sweet's syndrome. Cutis laxa usually precedes cardiac complications or, as in our case, occurs simultaneously; thus, immediate cardiac and rheumatologic examinations are important to initiate systemic therapy with anti-inflammatory and immunomodulatory agents early to prevent complications.
Topics: Humans; Child, Preschool; Sweet Syndrome; Cutis Laxa; Takayasu Arteritis; Collagen Type XI; Stomatitis, Aphthous; Pharyngitis; Heart Diseases
PubMed: 35925217
DOI: 10.1007/s00105-022-04999-2 -
Indian Journal of Dermatology,... 2017
Topics: Administration, Topical; Adrenal Cortex Hormones; Adult; Cataract; Collagen Type XI; Craniofacial Abnormalities; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias
PubMed: 28164888
DOI: 10.4103/0378-6323.198447 -
Medicine Nov 2016Recurrent fever syndrome, known as the Marshall syndrome (MS), is a clinical entity that includes several clinical features, such as: fever (39-40°C) that occurs...
BACKGROUND
Recurrent fever syndrome, known as the Marshall syndrome (MS), is a clinical entity that includes several clinical features, such as: fever (39-40°C) that occurs repeatedly at variable intervals (3-8 weeks) and in episodes of 3 to 6 days, cervical adenopathy, pharyngitis, and aphthous stomatitis. The diagnosis of MS is one of exclusions; laboratory data is nonspecific and no abnormalities correlated with MS have been detected thus far.
METHODS
The authors report the case of a 2-year-old girl admitted to a tertiary pediatric center for repeated episodes of fever with aphthous stomatitis and laterocervical adenopathy.
RESULTS
The child's case history raised the suspicion of MS, which was subsequently confirmed by exclusion of all the other differential diagnoses (recurrent tonsillitis, juvenile idiopathic arthritis, Behçet's disease, cyclic neutropenia, hyperglobulinemia D syndrome). After the 3 febrile episodes, bilateral tonsillectomy was performed based on the parents' consent, with favorable immediate and remote postoperative clinical outcomes. The diagnosis of MS is one based on exclusion, as laboratory data is nonspecific. We took into consideration other causes of recurrent fever (recurrent tonsillitis, infectious diseases, juvenile idiopathic arthritis, Behçet's disease, cyclic neutropenia, Familial Mediterranean fever syndrome, hyperglobulinemia D syndrome). In our case, MS criteria were met through clinical examination and the child's outcome. Subsequently, laboratory data helped us establish the MS diagnosis.
CONCLUSIONS
Pediatricians should consider the MS diagnosis in the context of recurrent fever episodes associated with at least one of the following symptoms: pharyngitis, cervical adenopathy or aphthous stomatitis. Despite the indication for tonsillectomy in young children being controversial, in this case the surgery led to the total remission of the disease.
Topics: Cataract; Child, Preschool; Collagen Type XI; Craniofacial Abnormalities; Female; Hearing Loss, Sensorineural; Humans; Osteochondrodysplasias
PubMed: 27858841
DOI: 10.1097/MD.0000000000005065 -
Indian Journal of Ophthalmology Nov 2016We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with...
We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints. We tentatively diagnosed the sisters as having an overlapping Marshall-Stickler phenotype based on clinical and radiological findings. Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.
Topics: Abnormalities, Multiple; Cataract; Child; Child, Preschool; Collagen Type XI; Cornea; Corneal Topography; Craniofacial Abnormalities; Eye Diseases, Hereditary; Female; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Humans; Osteochondrodysplasias; Phenotype; Sclera; Siblings; Visual Acuity
PubMed: 27958215
DOI: 10.4103/0301-4738.195615 -
Reumatologia Clinica 2016
Topics: Anti-Inflammatory Agents; Cataract; Child, Preschool; Cholecalciferol; Collagen Type XI; Craniofacial Abnormalities; Disease Progression; Drug Therapy, Combination; Female; Hearing Loss, Sensorineural; Humans; Osteochondrodysplasias; Prednisolone; Severity of Illness Index; Vitamin D Deficiency; Vitamins
PubMed: 26746599
DOI: 10.1016/j.reuma.2015.11.006