Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek +9 more
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Unmasking the Silent Glomus Tumor of the Index Finger—A Case Report and Literature Review
ABSTRACT Glomus tumors are rare, benign neoplasms of the finger, notorious for causing debilitating pain and significant diagnostic delays. We present the case of a 62‐year‐old female with a 15‐year history of chronic, severe left index finger pain that was exacerbated by cold and pressure. Unusually, her pain radiated proximally to the shoulder, which
Eesha Iqbal +7 more
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Acute severe lameness associated with proliferative bone on the dorsal middle phalanx (19 cases)
Summary Background Injury resulting in proliferative new bone formation on the dorsal aspect of the middle phalanx (P2) has been recognised by equine veterinarians and is generally referred to as capsulitis. However, no retrospective case series has been published on the condition. Objectives To describe the clinical features, treatment, and outcome of
J. G. Fowlie +3 more
wiley +1 more source
Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj
Congenital multiple exostoses with congenital heart disease
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
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ABSTRACT Objective To describe calvarial hyperostosis syndrome (CHS) as a potential and unusual cause of exophthalmos or epiphora in young dogs. Animals Studied A nine‐month‐old female intact (case 1) and a two‐year‐old male intact Labrador Retriever (case 2). Procedures Patient history, including previous treatments, was documented.
Andrea Steinmetz, Stefan Kohl
wiley +1 more source
Lower limb deformities and limb length discrepancies in hereditary multiple exostoses [PDF]
Alexandre Madoki +4 more
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Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source
Unveiling Giant Onychomatricoma: A Diagnostic and Therapeutic Challenge
Onychomatricoma is a rare benign tumor of the nail matrix that is often misdiagnosed due to its resemblance to other nail conditions, particularly onychomycosis. A giant variant, which affects the entire nail structure, is even more uncommon, with fewer than 20 cases documented.
Katherine Nicole Calderón Tiburcio +4 more
wiley +1 more source
Prevalência de Exostoses e Osteomas nos Mergulhadores da Armada Portuguesa
Objectivo: Determinar a prevalência de Exostoses e de Osteomas nos mergulhadores da Armada Portuguesa e a relação com os anos de mergulho, idade e o número de horas de imersão. Material e Métodos: População com 149 indivíduos. O grupo de estudo (Grupo
Carla d'Espiney Amaro +4 more
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