Rib Exostoses Presenting as Mediastinal Masses: A Rare Presentation and Minireview of the Literature
Costal osteocartilaginous exostoses, also known as osteochondromas, are the most common neoplasms of the long bones but are rare tumors of the ribs. Osteochondroma is often asymptomatic and incidentally observed.
Doina Butcovan +6 more
doaj +1 more source
Purpose The aim of this study was to identify risk factors for ankle valgus in children with hereditary multiple exostoses (HME). Methods We retrospectively reviewed the medical records of patients with HME who were examined at our hospital between 2010 ...
Wanglin Zhang +3 more
doaj +1 more source
Patologías óseas en un esqueleto de Oso pardo macho adulto de la Cordillera Cantábrica (Reserva Nacional de Caza de Riaño, León.) [PDF]
[Abstract] In this paper we describe with detail the pathological conditions found on the skeleton of an adult male brown bear from the Cantabrian Mountains.
Etxebarría, F., Pinto, A. C.
core +2 more sources
Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity
Archibald's metacarpal sign is characterized by dimpling over the knuckles when the fist is clenched, resulting from relative shortening of the fourth and fifth metacarpals compared with the third. ABSTRACT Turner syndrome (TS) often presents with subtle or overlooked clinical signs, contributing to frequent diagnostic delays. We describe the case of a
Maria Chiara Pellegrin +4 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
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
doaj +1 more source
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
Presence of IDH2 and TP53 mutations significantly reduces survival of patients with chondrosarcoma
Abstract Background Chondrosarcoma (CS) has a prognosis largely influenced by tumor grade. Although IDH mutations have been reported in CS, impact on patient`s survival remains controversial. This study aims to assess prognostic relevance of IDH mutations on disease‐specific survival (DSS), metastasis‐free survival (MFS), and local recurrence‐free ...
Anne Weidlich +8 more
wiley +1 more source
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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Exostoses of the external auditory canal [PDF]
The direct motive for this study was the find of exostoses of the external auditory canal on three skulls from ancient period (2nd-3rd century) which were excavated on site No. 80 in 1996 in Sremska Mitrovica (Sirmium).
Miladinović-Radmilović Nataša
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