Results 101 to 110 of about 10,204 (285)

Post‐COVID‐19 Exacerbation of a Stable Fibrous Dysplasia: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Fibrous dysplasia (FD) is a rare, benign fibro‐osseous lesion characterized by replacement of normal bone with extensive fibrous stroma due to abnormalities in osteoblast differentiation. After puberty and during adulthood, FD lesions usually become quiescent. However, some cases show signs of regrowth and reactivation.
Mohammed Taib Fatih   +7 more
wiley   +1 more source

Outcomes following surgical management of patellar instability in hypermobile patients are favourable compared to non‐operative management in non‐hypermobile patients: A systematic review and meta‐analysis

open access: yesJournal of Experimental Orthopaedics, Volume 12, Issue 2, April 2025.
Abstract Purpose To assess the outcomes of surgical management of patellar instability in hypermobile patients. Methods Three online databases (PubMed, MEDLINE and EMBASE) were searched from inception to 27 September 2024, to identify studies investigating the surgical management options for patellar instability in hypermobile patients. Data pertaining
Joshua Dworsky‐Fried   +6 more
wiley   +1 more source

Navigating an Uninformative Genomic Test Result: A Practical Guide

open access: yesJournal of Paediatrics and Child Health, Volume 61, Issue 3, Page 344-353, March 2025.
ABSTRACT Background Although genomic testing is increasingly standard of care for diagnosing children and adults with genetic conditions, over 50% of genomic testing will return an uninformative result. Aim To provide a practical guide for paediatricians on how to approach an uninformative genomic test result, and the pathways which may be available to
Laura St Clair   +10 more
wiley   +1 more source

Dermoscopy aids in differentiating café‐au‐lait macules from congenital melanocytic nevi in patients with darker skin phototypes

open access: yesPediatric Dermatology, Volume 42, Issue 1, Page 212-215, January/February 2025.
Abstract Dermoscopy aids in the diagnosis and management of pigmented growths and disorders of pigmentation in children. However, there is limited literature on the dermoscopic appearance of café‐au‐lait macules (CALMs) and congenital melanocytic nevi in patients with dark skin.
Asghar Shah   +2 more
wiley   +1 more source

Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report

open access: yesWorld Journal of Clinical Pediatrics, 2021
BACKGROUND McCune–Albright syndrome (MAS) is caused by postzygotic somatic mutations of the GNAS gene. It is characterized by the clinical triad of fibrous dysplasia, café-au-lait skin spots, and endocrinological dysfunction. Myriad complications in MAS,
Yoshinori Satomura   +6 more
semanticscholar   +1 more source

Oral Alendronate Treatment for Severe Polyostotic Fibrous Dysplasia due to McCune-Albright Syndrome in a Child: A Case Report [PDF]

open access: yes, 2010
Polyostotic fibrous dysplasia (FD) associated to McCune-Albright Syndrome (MAS) often leads to fractures, deformities, and bone pain resulting in bad quality of life.
Aragão, Ana Luiza Andrade   +1 more
core   +3 more sources

Successful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case Report.

open access: yesHorm Res Paediatr, 2023
Introduction: Perinatal hypercorticism, regardless of its cause, has a high mortality or leads to life-long lasting complications. Some publications reported on the use of metyrapone in children with McCune Albright syndrome (MAS) and hypercorticism but ...
Ertl DA   +8 more
europepmc   +2 more sources

Diagnostic and management challenges in paediatric Cushing's syndrome

open access: yesClinical Endocrinology, Volume 101, Issue 6, Page 631-639, December 2024.
Abstract Objective Cushing syndrome (CS) is the result of chronic exposure to glucocorticoid excess. CS in children is most often caused by the administration of exogenous steroids. Endogenous CS is rare in the paediatric population and is caused mainly by tumours of the pituitary and adrenal glands, with ectopic sources being extraordinarily rare ...
Kriti Joshi   +2 more
wiley   +1 more source

Strabismic syndromes and syndromic strabismus - a brief review [PDF]

open access: yesarXiv, 2015
Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv  

EFFICACY OF HOMOGENOUS BONE GRAFTING IN MCCUNE-ALBRIGHT SYNDROME [PDF]

open access: yes, 1985
A case of McCune-Albright syndrome is reported. The patient was a girl aged 8 years. The chief complaints were gait disturbance and a limp. Roentgenograms showed collapse and severe varus deformity of the femoral neck on the right side with 64° of neck ...
FUJITA, Atsushi   +4 more
core  

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