Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley +1 more source
Osteochondroma of the scapula associated with a subclavian artery pseudoaneurysm: Case report
Osteochondromas rarely induce vascular complications by mechanical compression. We present the case of a subclavian artery pseudoaneursym caused by an osteochondroma of the scapula in a 67-year-old male.
Ana Oljaca +7 more
doaj +1 more source
A biofabricated 3D in vitro model recapitulating endochondral ossification (ECO) is described, mimicking the steps from condensation to chondrogenesis and hypertrophy, culminating with vascularization of the hypertrophic construct. As a model proof of concept application, Ewing Sarcoma cells are seeded in the model, showing modifications in their ...
Maria Vittoria Colombo +13 more
wiley +1 more source
Pain and Depression in Pediatric Hereditary Multiple Exostoses Patients
Aim: In this study, we sought to evaluate the complications of Hereditary Multiple Exostosis (HME) particularly the presence of pain, and its effects on pediatric and adolescent groups.Patients and Methods: 72 (37male/32female) patients aging between 10 ...
Osman Emre Aycan
doaj +1 more source
One-stage surgical excision of a huge bilateral multiple osteochondroma of the hip: a case report
Osteochondroma or hereditary multiple exostoses is the most common benign bone tumor and is usually found in young patients. Osteochondromata of the proximal femur or hip have been reported in 30% to 90% of patients with hereditary multiple exostoses ...
Afshin Taheriazam, Amin Saeidinia
doaj +1 more source
Hereditary Multiple Exostoses: A Case Report
Background: Exostoses are bone growths that are abnormal or different from underlying architecture of bone. It starts near growth centres close to joints. Face and skull are severally unaffected.
Ugezu, AI, Obiesie, EA, Ihegihu, CC
core
Cervical Myelopathy Due to an Osteochondroma in Multiple Hereditary Exostosis
Hereditary multiple exostosis is a rare genetic condition characterized by the development of multiple exostoses. Vertebral localization is rare, less than 7%. Spinal cord compression in hereditary multiple exostosis is a rare condition.
Géraud Garcia Segbedji +3 more
doaj +1 more source
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li +4 more
doaj +1 more source
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? [PDF]
BACKGROUND: Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostoses (HME).
MEAZZA, CRISTINA +13 more
core +1 more source
A gene for hereditary multiple exostoses maps to chromosome 19p
Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones.
Legeai-Mallet, Laurence +9 more
core +1 more source

