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Congenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.
Int J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.
View Article and Find Full Text PDFECEL1 mutation in distal arthrogryposis type 5D: A case report.
Eur J Obstet Gynecol Reprod Biol
December 2024
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
Considerations in Correction of Wrist Deformity in Arthrogryposis.
J Hand Surg Asian Pac Vol
December 2024
Ganga Hospital, Coimbatore, Tamil Nadu, India.
The wrist is affected in all the forms of arthrogryposis and is a common site requiring surgical intervention. The wrist usually has a flexion and ulnar deviation deformity of varying severity. A flexion deformity of >40° results in a weak hand grip and gives an 'abnormal' look to the patient as a whole and hence, is a common reason for patients to desire surgical correction.
View Article and Find Full Text PDFEffects of Osteopathic Manipulative Treatment on Rare Diseases: A Case Report on Gordon Syndrome.
Cureus
October 2024
Osteopathic Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Clearwater, USA.
Gordon syndrome (GS), also known as distal arthrogryposis type 3, is a rare congenital disorder characterized by debilitating multisystem defects and for which there is currently no cure. In the absence of a definitive treatment, multimodal symptomatic approaches are employed to enhance quality of life. The case presented involves a 40-year-old female with GS who exhibited multiple chronic, widespread, and severe musculoskeletal ailments that limited her daily functional capacity.
View Article and Find Full Text PDFPrenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- The study discusses the prenatal diagnosis of Jacobsen syndrome in a 41-year-old pregnant woman, which was linked to specific chromosomal abnormalities detected through advanced genetic testing.
- The fetus exhibited multiple congenital anomalies including growth restrictions, heart defects, and physical deformities, prompting amniocentesis for further analysis.
- Chromosome microarray analysis (CMA) revealed significant deletions and duplications in chromosomes 11 and 8, respectively, confirming the diagnosis and illustrating the effectiveness of CMA in identifying complex genetic issues in prenatal cases.
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