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British Medical Journal Oct 1958
Topics: Arachnodactyly; Humans; Marfan Syndrome
PubMed: 13572946
DOI: No ID Found -
Nagoya Journal of Medical Science Aug 2013Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been... (Review)
Review
Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. Scoliosis was conservatively treated with a brace at 13 years of age, but the spinal deformity rapidly progressed within a year. Plain radiographs before surgery showed scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo traction. Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar scoliosis was 28 degrees (correction rate: 65%). Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion, Cohen syndrome is often complicated by spinal deformity, particularly kyphosis, that is likely to progress even in adulthood. In our patient, spinal deformity progressed within a short period, even with brace treatment. Surgery should be required before progression to the severe spinal deformity with careful attention to general anesthesia.
Topics: Adolescent; Anesthesia, General; Developmental Disabilities; Female; Fingers; Humans; Intellectual Disability; Kyphosis; Male; Microcephaly; Muscle Hypotonia; Myopia; Obesity; Retinal Degeneration; Scoliosis; Surgical Procedures, Operative; Treatment Outcome
PubMed: 24640185
DOI: No ID Found -
JMIR Pediatrics and Parenting Oct 2020Young people with genetic conditions often face challenges coping with their health condition. It can be difficult for them to meet someone with a similar condition,...
BACKGROUND
Young people with genetic conditions often face challenges coping with their health condition. It can be difficult for them to meet someone with a similar condition, which is important for reinforcement of chronic illness management recommendations. Social media is used by 97% of young people in the United States and may provide those with these disorders a space for emotional expression and support. However, there is a scarcity of literature related to the use of social media among adolescents with genetic conditions as an indicator of their perception regarding their own condition.
OBJECTIVE
The purpose of this pilot study was to obtain preliminary data to assess and understand social media use by young people with connective tissue disorders and determine whether they use social media to connect with patients with similar conditions or whether they would be interested in doing so.
METHODS
We undertook a pilot study of selected connective tissue disorders occurring in young people between the ages of 11 and 25 years, including Marfan syndrome; Ehlers-Danlos syndrome subtypes classical, classical-like, cardiac-valvular, and vascular; Beals congenital contractual arachnodactyly; and Alport hereditary nephritis. The study took place within one pediatric clinical system. Patients were identified through electronic medical record search and International Classification of Diseases, Ninth Revision, coding at a Midwest university-based clinical system. Study subjects completed a short survey describing their experiences with their connective tissue disorders, their means of self-expression, their existing network of persons to communicate with, and their use of social media. Data analysis included nominal and bivariate regressions to compare social media use in relation to age.
RESULTS
Our 31 participants (42% response rate) were 55% female (17/31) and their average age was 18 years (SD 5). All participants used social media and there were no statistically significant differences between social media use and age. The majority of participants (25/30, 83%) reported that they never used social media to discuss their condition (P=.09), and only 17% (5/30) knew someone online with a similar condition (P=.50). Most participants (19/30, 63%) said they would communicate with someone with a similar disorder (P=.64).
CONCLUSIONS
We found that young individuals with connective tissue disorders use at least one type of social media. A majority did not use social media to discuss their condition or know someone online with a similar condition. However, many persons were interested in finding others similarly affected. Social media could serve as a platform for young people with connective tissue disorders to connect. Peer support is important in disease management and adolescent development. Future studies should aim at understanding social media use among young people with connective tissue disorders and helping them connect with other people who have similar conditions.
PubMed: 33124992
DOI: 10.2196/16367 -
Journal of Medical Genetics Oct 2022Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome...
BACKGROUND
Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among the LDS subtypes and SGS.
METHODS
We explore the variability within and across a cohort of 44 patients through deep clinical phenotyping, three-dimensional (3D) facial photo surface analysis, cephalometric and geometric morphometric analyses of cone-beam CT scans.
RESULTS
The most common craniofacial features detected in this cohort include mandibular retrognathism (84%), flat midface projection (84%), abnormal eye shape (73%), low-set ears (73%), abnormal nose (66%) and lip shape (64%), hypertelorism (41%) and a relatively high prevalence of nystagmus/strabismus (43%), temporomandibular joint disorders (38%) and obstructive sleep apnoea (23%). 3D cephalometric analysis demonstrated an increased cranial base angle with shortened anterior cranial base and underdevelopment of the maxilla and mandible, with evidence of a reduced pharyngeal airway in 55% of those analysed. Geometric morphometric analysis confirmed that the greatest craniofacial shape variation was among patients with LDS type 2, with distinct clustering of patients with SGS.
CONCLUSIONS
This comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-β signalling pathway, with a particularly severe phenotype associated with and mutations. Multimodality assessment of craniofacial anomalies objectively reveals the impact of mutations of the TGF-β pathway with perturbations associated with the cranium and cranial base with severe downstream effects on the orbit, maxilla and mandible with the resultant clinical phenotypes.
Topics: Arachnodactyly; Craniosynostoses; Humans; Loeys-Dietz Syndrome; Marfan Syndrome; Receptor, Transforming Growth Factor-beta Type II; Transforming Growth Factor beta; Transforming Growth Factors
PubMed: 34916229
DOI: 10.1136/jmedgenet-2021-107695 -
Journal of Medical Genetics Aug 1994Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are... (Review)
Review
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of the calf muscles. Many patients have kyphoscoliosis and mitral valve prolapse and, very occasionally, aortic root dilatation and ectopia lentis have been described. Linkage to a gene coding for fibrillin on chromosome 5q23-31 has been shown in several kindreds. The prognosis for a normal lifespan is good and improvement in joint contractures is usual.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 5; Contracture; Diagnosis, Differential; Ear, External; Fibrillins; Fingers; Genes, Dominant; Genetic Linkage; Humans; Kyphosis; Marfan Syndrome; Microfilament Proteins; Scoliosis; Syndrome
PubMed: 7815423
DOI: 10.1136/jmg.31.8.640 -
The British Journal of Ophthalmology Apr 1959
Topics: Arachnodactyly; Disease; Glaucoma; Humans; Lens, Crystalline; Marfan Syndrome; Medical Records
PubMed: 13638521
DOI: 10.1136/bjo.43.4.252 -
British Medical Journal Mar 1957
Topics: Aortic Aneurysm; Arachnodactyly; Ductus Arteriosus; Ductus Arteriosus, Patent; Humans; Marfan Syndrome; Medical Records
PubMed: 13404254
DOI: 10.1136/bmj.1.5019.629 -
American Journal of Kidney Diseases :... Jul 2017
Topics: Arachnodactyly; DNA Copy Number Variations; DiGeorge Syndrome; Humans; Marfan Syndrome; Phenotype
PubMed: 28456345
DOI: 10.1053/j.ajkd.2017.03.017 -
The American Journal of Psychiatry Jul 2020
Topics: Arachnodactyly; DiGeorge Syndrome; Genetic Variation; Humans; Marfan Syndrome; Psychotic Disorders
PubMed: 32605438
DOI: 10.1176/appi.ajp.2020.20050598 -
Italian Journal of Pediatrics Jun 2022Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic dilatations and arterial tortuosity,... (Review)
Review
BACKGROUND
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, especially aortic dilatations and arterial tortuosity, craniofacial and skeletal features, joint laxity or contractures, skin abnormalities, hypotonia and motor delay. Its diagnosis is established by the identification of a pathogenic variant in TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2 or TGFB3 genes. In newborns and toddlers, vascular complications such as aneurism rupture, aortic dissection, and intracerebral incidents, can occur already in the weeks of life. To avoid these events, it is crucial to precociously identify this condition and to start an apunderwent a surgical procedurepropriate treatment which, depending on the severity of the vascular involvement, might be medical or surgical.
CASE PRESENTATION
We report two cases of Loeys-Dietz syndrome precociously diagnosed. The first describes a male, born at 38 + 1 weeks of gestation, with hypotonia, joint hypermobility, arachnodactyly, and fingers joint contractures, as well as senile appearance and facial dysmorphisms. In the suspect of a connective tissue disorder, an echocardiography was performed and revealed an aortic root dilatation of 13 mm (Z score + 3). A trio based Whole Exome Sequencing found a novel de novo variant in the TGFBR2 gene. Despite the onset of a low-dose angiotensin receptor blocker therapy, the aneurysm progressed. The second case describes a female, born at 41 + 3 weeks of gestation. During the neonatal examination a cleft palate was noticed, as well as minor dysmorphisms. Since the family history was suspicious for connective tissue disorders, a genetic panel was performed and identified a pathogenetic variant in TGFB3 gene. In this case, the echocardiography revealed no abnormalities.
CONCLUSIONS
In addition to our cases, we identified 14 subjects with neonatal LDS in the medical literature. All of them had aortic involvement. Skeletal and face abnormalities, including eyes and palate malformations, were also highly frequent. Overall, 10 subjects required medical therapy to avoid aneurysm progression, and 8 patients underwent surgical procedures. Benefits of an early diagnosis of LDS are various and imply a potential modification of the natural history of the disease with early interventions on its complications.
Topics: Connective Tissue Diseases; Contracture; Female; Humans; Infant, Newborn; Loeys-Dietz Syndrome; Male; Muscle Hypotonia; Receptor, Transforming Growth Factor-beta Type II; Transforming Growth Factor beta3
PubMed: 35668506
DOI: 10.1186/s13052-022-01281-y