Results 11 to 20 of about 3,158 (217)

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology. [PDF]

Clin Genet
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Leduc F, Vanlerberghe C, Escande F, Brunelle P, Petit F, Dieux A.   +5 more
europepmc   +2 more sources

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients. [PDF]

Mol Genet Genomic Med
This study presents comprehensive clinical phenotype and genetic variant data for six pediatric patients with craniosynostosis. Genetic analyses revealed a total of eight variants in the IL11RA gene. Through genetic analysis and protein structure prediction, we have conducted preliminary explorations into the pathogenic foundation of these newly ...
Liu Z, Zhou D, Wang C, Zheng B, Yan Q, Zhou W, Wang G.   +6 more
europepmc   +2 more sources

The influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis. [PDF]

J Anat
This quantitative study identified distinct cranial vault morphologies in Apert and Crouzon syndromes, with a larger anterior fossa in Apert and high variability in Crouzon, reflecting different patterns of suture closure. Abstract Craniosynostoses are congenital conditions characterized by premature suture fusions, altering skull growth and ...
Delassus O, Ben Bouazza L, Traoré AR, Uguen M, Boddaert N, Germanaud D, Mangin JF, Paternoster G, Taverne M, Khonsari RH.   +9 more
europepmc   +2 more sources

Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in
Bhavsar T, Chaudhary SM, Singh S.
europepmc   +2 more sources

The Crouzan Syndrome-A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Crouzon syndrome is a genetic disorder which is known as the brachial arch syndrome. It is an autosomal dominant disorder which is one of a rare group of syndromes which is characterized by cranio synostosis or a premature closing of the cranial ...
Manu Prasad, Ashwini S. Shetty, Manjula Shantaram   +2 more
doaj   +1 more source

Abnormal Cranial Shape Preceding Radiographic Evidence of Craniosynostosis

Plastic and Reconstructive Surgery, Global Open, 2020
Summary:. Premature fusion of a cranial suture is known to result in characteristic changes in the head shape, even when the synostosis involves only part of the suture.
Josie Z. Fazzino, BA, Esperanza Mantilla-Rivas, MD, Joseph H. Talbet, BA, Elina Kapoor, BA, Monica Manrique, MD, Jennifer L. McGrath, MD, Suresh N. Magge, MD, Albert K. Oh, MD, Gary F. Rogers, MD, JD, LLM, MBA, MPH   +8 more
doaj   +1 more source

The use of a single-piece bone flap for cranial reshaping in anterior craniosynostosis patients: clinical experience and a description of a novel technique

Maxillofacial Plastic and Reconstructive Surgery, 2022
Background Craniosynostosis is known as premature closure of one or more of the cranial sutures. Anterior craniosynostosis involves anterior plagiocephaly and trigonocephaly.
Hatan Mortada, Ikhlas Altuawijri, Taghreed Alhumsi   +2 more
doaj   +1 more source

Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]

, 2013
Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna   +6 more
core   +2 more sources

Crouzon Syndrome with Ocular Abnormalities: A Case Report [PDF]

Indian Journal of Neonatal Medicine and Research, 2016
Crouzon syndrome is a rare genetic disorder characterized by premature closure of cranial sutures, exophthalmos, beak-like nose and mid facial hypoplasia. It was initially described as hereditary syndrome of craniofacial synostosis.
Shakeen Singh, Anubha Bhatti, Mabel Bishnoi   +2 more
doaj   +1 more source

The earliest evidence of true lambdoid craniosynostosis: the case of “Benjamina”, a Homo heidelbergensis child [PDF]

, 2010
Background The authors report the morphological and neuroimaging findings of an immature human fossil (Cranium 14) diagnosed with left lambdoid synostosis. Discussion The skull was recovered at the Sima de los Huesos site in Atapuerca (Burgos, Spain).
Arsuaga, Juan Luis, Gracia Téllez, Ana, Lorenzo Merino, Carlos, Martínez Lage, Juan F., Martínez Mendizábal, Ignacio, Pérez Espejo, Miguel Ángel   +5 more
core   +2 more sources