In this Correspondence, F. Mari and colleagues report a second two-generation family with distal arthrogryposis caused by a mutation in MET tyrosine kinase. [Image: see text]
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http://dx.doi.org/10.1038/s44321-024-00044-y | DOI Listing |
Cureus
December 2024
Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, JPN.
This case study details a 41-year-old male patient with Freeman-Sheldon syndrome (FSS) who presented with ocular hypertension. The intraocular pressure (IOP) in his right eye progressively increased over time, leading to visual field loss, culminating in a diagnosis of juvenile-onset open-angle glaucoma (JOAG). Despite conventional medical therapies, adequate IOP control was not achieved, necessitating his referral to Nagoya City University Hospital.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Petersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina 188300, Russia.
Arthrogryposis, which represents a group of congenital disorders, includes various forms. One such form is amyoplasia, which most commonly presents in a sporadic form in addition to distal forms, among which hereditary cases may occur. This condition is characterized by limited joint mobility and muscle weakness, leading to limb deformities and various clinical manifestations.
View Article and Find Full Text PDFClin Case Rep
January 2025
Craig R Dufresne Fairfax Virginia USA.
Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Eur J Obstet Gynecol Reprod Biol
February 2025
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.
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