Results 41 to 50 of about 1,923 (159)

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report

Journal of Current Ophthalmology
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, Nishtha Saini, Krutika Boriwal, Prashant Sharma   +3 more
doaj   +1 more source

Two Siblings Followed Up for Hereditary Multiple Exostoses

Haseki Tıp Bülteni, 2014
Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones. Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children.
Meltem Erol, Özgül Yiğit, Oktay Adanır, Mehmet Toksöz, Halis Narin, Veysel Gök, Dilek Borakay, Murat Konya   +7 more
doaj   +1 more source

Hereditary Multiple Exostoses and Orthopaedist- Till the Plausible Management Evolves [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Hereditary Multiple Exostoses (HME) is an inherited genetic skeletal disorder of enchondral bone. It is an autosomal dominant disorder affecting juxtaepiphyseal region of the long bones and includes multiple exostoses.
Pankaj Kumar Mishra, Amol Dubepuria, Sanjiv Gaur   +2 more
doaj   +1 more source

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case–Control Study

Journal of Oral Pathology &Medicine, Volume 55, Issue 1, Page 155-160, January 2026.
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
Pâmella de Pinho Montovani, Gabriela Pizão Werneck Moreira da Costa, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +3 more
wiley   +1 more source

Spontaneously Extruded Osteoma of the External Auditory Canal

Case Reports in Otolaryngology, Volume 2026, Issue 1, 2026.
Osteomas of the external ear canal are rare but benign bony growths. We present a case report of an external auditory canal osteoma in a 74‐year‐old female that spontaneously extruded from the ear. The patient was evaluated after the lesion dislodged from her ear canal without physical manipulation or operative intervention, and she presented the ...
Kristen L. Zayan, Tracy Cheng, Andrew A. McCall, Anuja Salgaonkar   +3 more
wiley   +1 more source

Multiple Hereditary Exostoses [PDF]

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2005
Carolyn M, Sofka, Gregory R, Saboeiro, Robert, Schneider   +2 more
openaire   +3 more sources

Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case

Case Reports in Radiology, Volume 2026, Issue 1, 2026.
Proteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development. In most individuals, Proteus syndrome has minimal to no manifestations at birth but progresses during childhood and adolescence.
Cody Reid Johnson, Syed Muhammad Awais Bukhari, Amit Gupta, Atsushi Komemushi   +3 more
wiley   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

Therapeutics and Clinical Risk Management, 2016
Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M   +6 more
doaj  

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +1 more source

Identification of genomic regions associated with partial resistance to Aphanomyces root rot in pea

The Plant Genome, Volume 18, Issue 4, December 2025.
Abstract Root rot caused by Aphanomyces euteiches is a major concern in pea (Pisum sativum L.). The lack of other effective control strategies makes crucial the development of resistant varieties. Although partial resistance has been reported, its quantitative inheritance, the association of resistance‐linked genomic regions with unfavorable agronomic ...
Sara Rodriguez‐Mena, Maria Carlota Vaz Patto, Susana Trindade Leitão, Diego Rubiales, Mario González   +4 more
wiley   +1 more source