Results 41 to 50 of about 727 (143)
Rotational osteotomies for congenital radioulnar synostosis [PDF]
The Journal of Bone and Joint Surgery. British volume, 2005 In five children, six forearms with a fixed pronation deformity secondary to congenital radioulnar synostosis were treated by a derotation osteotomy of the distal radius and the midshaft of the ulna. There were three boys and two girls with a mean age of 4.9 years (3.5 to 8.25) who were followed up for a mean of 29 months (18 to 43).
M, Ramachandran, K, Lau, D H A, Jones
openaire +2 more sources
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis
Molecular Genetics &Genomic Medicine, Volume 10, Issue 1, January 2022., 2022 Radioulnar synostosis is a rare disorder with the genetic basis keeping unknown for several 100 of years. We recently identified SMAD6 and NOG are two disease genes for it, but the data are still limited. For using such advances in clinic, we further analyzed a large cohort of patients and provided a systemic data for SMAD6 and the disease.
Fang Shen +9 more
wiley +1 more source
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022 Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short‐ and long‐term outcomes and ...
Rafat Mosalli +5 more
wiley +1 more source
Blood Advances, 2018 : Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis.
Manuela Germeshausen +11 more
doaj +1 more source
SMAD6-deficiency in human genetic disorders
npj Genomic Medicine, 2022 SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ...
Ilse Luyckx +3 more
doaj +1 more source
Congenital bilateral radioulnar synostosis with acute lymphoblastic leukemia: A case report
Journal of Applied Hematology, 2017 Radioulnar synostosis (RUS) is a rare, congenital bone anomaly characterized by fusion of the radius and the ulna. RUS occurs more often in males than in females and is bilateral in 50% of the cases.
Rahaf M Qari, S K Aljaouni
doaj +1 more source
Congenital radioulnar synostosis: A report of 11 cases and review of literature [PDF]
Acta Medica Iranica, 2002 During the last 10 years, we have had 11 cases of radioulnar (RU) synostosis, a very rare congenital amomaly of the upper extremity. Only 3 of them required surgical intervention.
Farzan M +3 more
doaj +2 more sources
İstanbul Medical Journal, 2017 Congenital radioulnar synostosis is a rare but challenging congenital elbow anomaly. Patients have severe restriction of forearm rotation, but most patients do not report flexion-extension limitation.
Serkan Aykut +3 more
doaj +1 more source
Rare congenital anomaly among population of the Migration Period (based on excavations in the Eastern Aral region) [PDF]
Вестник археологии, антропологии и этнографии, 2020 This paper aims to introduce into scientific discourse the information on unique pathological features observed in the individuals of the Jetyasar archaeological Culture buried in the necropolis of Altyn-Asar 4.
Mednikova M.B.
doaj +1 more source
Warfare, Labor, and Urban Stress: Divergent Health Trajectories in Mongol‐Period Karakorum
International Journal of Osteoarchaeology, Volume 36, Issue 4, Page 954-969, July/August 2026.ABSTRACT This study examines major palaeopathological trends in Mongol‐period Karakorum and incorporates them into the existing body of research in order to deepen our understanding of health and survival, the impacts of conflict and violence on past populations, and the lived experiences of the city's diverse inhabitants within the broader socio ...
Júlia Olive‐Busom +4 more
wiley +1 more source