Results 31 to 40 of about 1,979 (168)
ABSTRACT Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder characterized by the development of multiple osteochondromas adjacent to the growth plates. Although skeletal deformities and palpable masses are common findings, chronic pain may represent an early and underappreciated diagnostic clue, particularly in pediatric
Melissa Mariti Fraga +7 more
wiley +1 more source
Ankle Mortise Instability in Multiple Hereditary Exostoses
Category: Ankle, Ankle Arthritis, Pediatric Foot and Ankle Introduction/Purpose: Ankle valgus has been reported in 50% of patients with multiple hereditary exostoses (MHE) and, untreated, results in early arthrosis. Widening of the ankle mortise has also
M Pierce Ebaugh DO +4 more
doaj +1 more source
ABSTRACT Background Postoperative complications substantially increase morbidity, mortality and healthcare costs. Understanding prognostic factors is essential for risk stratification, targeted prevention strategies, and development of prediction models.
Anders Peder Højer Karlsen +15 more
wiley +1 more source
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source
Hereditary multiple exostoses and schizophrenia
I report a case of a patient who suffered schizophrenia and multiple exostoses and argue the possible role of EXT gene and nearly chromosomal loci in further genetic investigations related to schizophrenia.
openaire +3 more sources
ABSTRACT This study presents a reproducible framework for identifying the anatomical position of cattle phalanges, integrating both morphological and osteometric approaches for application to modern and zooarchaeological assemblages. The dataset comprises 1853 phalanges from 106 individuals with known and unknown phalangeal position representing ...
Audrey Crabbé +2 more
wiley +1 more source
Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report
Purpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar +3 more
doaj +1 more source
A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda +2 more
doaj +1 more source
Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise +5 more
wiley +1 more source
Introduction. Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and
Emmanuel Bukara +6 more
doaj +1 more source

