Results 51 to 60 of about 727 (143)
Scientific Reports, 2022 Existed classifications of congenital proximal radioulnar synostosis (PRUS) mainly focus on osseous changes and do not cover all types of congenital PRUS, ignoring the role and developing status of the supinator.
Jin Li +6 more
doaj +1 more source
Congenital Radioulnar Synostosis – A Case Report
Scholars Journal of Medical Case Reports, 2023 Congenital radio-ulnar synostosis (CRS) is a rare congenital disorder characterized by the fusion of the radius and ulna bones in the forearm. This results in a lack of mobility and flexibility in the forearm, and can cause functional limitations, including difficulty with grasping and holding objects.
Mennis N +4 more
openaire +1 more source
Alcohol, Clinical and Experimental Research, Volume 50, Issue 5, May 2026.A prospective cohort study assessed 28 children with substantial prenatal alcohol exposure (PAE) and 52 controls at the age of 6. Most PAE children met Fetal Alcohol Spectrum Disorder (FASD) criteria, showing dysmorphic features, neurocognitive deficits, ADHD symptoms, and other health impairments. None had a prior diagnosis, demonstrating the need for
M. Jolma +5 more
wiley +1 more source
Indian Journal of Paediatric Dermatology, 2022 Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances
Manisha Goyal +3 more
doaj +1 more source
Congenital unilateral proximal radioulnar synostosis
Medicine, 2020 Abstract Rationale: Congenital proximal radioulnar synostosis is a rare genetic malformation of the upper limb. This deformity, which is found mainly in preschool-aged children, has no recognized diagnosis and treatment.
Jia, Yuqing +4 more
openaire +2 more sources
Case Reports in Medicine, Volume 2026, Issue 1, 2026.Trichohepatoenteric syndrome (THES) is a rare, autosomal recessive disorder characterized by early‐onset diarrhea, woolly hair, and facial dysmorphism and variable multisystem involvement. Herein, we report a 17‐year‐old male with a genetically confirmed THES who presented with worsening diarrhea, fatigability, weight loss, and epigastric pain ...
Hatem M. Taha +7 more
wiley +1 more source
Pediatric Chronic Monteggia Fractures: Insights From a Comprehensive Review
Pediatric Discovery, Volume 3, Issue 4, December 2025.ABSTRACT Monteggia fractures represent relatively infrequent injuries in the pediatric population, accounting for approximately 2% of all forearm fractures. However, the rate of missed diagnoses ranges from 30% to 50%, leading to the development of chronic Monteggia fractures in children.
Gengze Li, Yuan Zhang
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger +4 more
wiley +1 more source
Prenatal Diagnosis, Volume 45, Issue 1, Page 3-14, January 2025.ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit.
Arda Arduç +7 more
wiley +1 more source
An atypical Aymé‐Gripp phenotype detected by exome sequencing
American Journal of Medical Genetics Part A, Volume 194, Issue 1, Page 70-76, January 2024.Abstract Aymé‐Gripp Syndrome (AGS) is an ultra‐rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date.
Martina Caiazza +9 more
wiley +1 more source