Congenital hallux varus is uncommon as an isolated deformity. Many authors cite this deformity in conjunction with metatarsus varus or talipes equino varus deformities. An unusual case of bilateral congenital hallux varus is presented in a 9-month-old. A review of etiologies and treatment methods are given.
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Psychiatr Genet
February 2025
Department of Obstetrics.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.
View Article and Find Full Text PDFOphthalmic Genet
December 2024
Department of Ophthalmology, Université de Montréal, Montreal, Québec, Canada.
Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.
J Am Acad Orthop Surg Glob Res Rev
December 2024
From Limb Lengtheneing and Complex Reconstruction Service, Khoula Hospital, Ministry of Health, Muscat, Oman; and the Department of Orthopaedic Surgery, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt.
Congenital hallux varus is an unusual condition in which the big toe is medially angulated at the metatarsophalangeal joint. Different surgical methods have been described to correct it; however, there is always a risk of recurrence. The multiplanar nature of the deformity and the disrupted anatomy from a previous surgery make recurrent cases difficult to treat.
View Article and Find Full Text PDFRadiol Case Rep
January 2025
Radiology Department, Pediatric Teaching Hospital, Mohammed V University, Rabat, Morocco.
Fibrodysplasia ossificans progressiva is a rare and severely debilitating genetic disorder affecting approximately 1 in 2 million people. It is characterized by progressive heterotopic ossification of soft tissues, leading to the formation of ectopic bone in extraskeletal areas, as well as congenital malformations of the great toes. FOP can also be considered a disorder of osteochondrogenesis, with most musculoskeletal abnormalities related to dysregulated chondrogenesis, such as heterotopic endochondral ossification, abnormal cartilage formation, growth plate dysplasia, osteochondroma formation, and early arthropathy.
View Article and Find Full Text PDFSkin Appendage Disord
October 2024
Department of Dermatology, Inselspital, University of Berne, Bern, Switzerland.
Introduction: The toes are the distal extension of the foot increasing its weight-bearing area and the security of the stance. The nails are the acral part of the toes and are so intimately linked with the distal interphalangeal joint, its ligaments, and tendons that they were also called musculoskeletal appendages. The big toe is of particular importance for gait and stance.
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