Results 41 to 50 of about 4,207 (207)

Crouzon Syndrome with Hydrocephalus [PDF]

International Journal of Medical Arts, 2023
Background: Hydrocephalous in the presence of primary craniosynostosis is a unique condition with respect to pathogenesis, clinical significance, and morphological appearance.
Saad Javed, Eesha Yaqoob, Ashraf Mahmood, Bipin Chaurasia   +3 more
doaj   +1 more source

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]

, 2016
Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A., Lazić, E., Nedeljković, N., Nikodijević Latinović, A.   +3 more
core   +3 more sources

Bronchial asthma, recurrent croup and bronchiectasis in a child with Crouzon syndrome: clinical observation

Медицинский совет, 2014
Crouzon syndrome (craniofacial dysostosis) is an autosomal dominant disorder, a form of craniosynostosis syndrome; characterized by premature closure of cranial sutures, midfacial hypoplasia, lower mandibular prognathism, marked proptosis and strabismus
D. Y. Ovsyannikov, T. I. Nazarova, M. A. Belyashova, M. I. Livshits, A. V. Gorbunov   +4 more
doaj   +1 more source

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

Molecular Genetics & Genomic Medicine, 2019
Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births.
Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang   +6 more
doaj   +1 more source

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

Molecular Genetics & Genomic Medicine, 2022
Objective Craniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome.
Xianda Wei, Guori Huang, Baoheng Gui, Bobo Xie, Shaoke Chen, Xin Fan, Yujun Chen   +6 more
doaj   +1 more source

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources

Separaxion anxiety in pediatric migraine without aura: A pilot study [PDF]

, 2017
Background: Separation anxiety (SA) can be defined as the fear reaction and protest manifested by children when the main caregivers move away from him/her or in front of unfamiliar person. SA near eight months may be considered as an important and normal
Di Filippo T., Di Folco A., Gabriele Tripi, Maltese A., Parisi L., Romano P., Salerno M.   +6 more
core   +1 more source

Crouzons syndrome: A case report with review of literature

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2013
Louis Edouard Octave Crouzon, a French neurologist, in 1912, described the hereditary syndrome of craniofacial synostosis in a mother and son. He described the triad as skull deformities, facial anamolies and exopthalmos now known as Crouzon syndrome (CS)
R Tanwar, A R Iyengar, K S Nagesh, B V Subhash   +3 more
doaj   +1 more source

Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]

, 2015
Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa, Kurzrock, Razelle, Schwaederle, Maria   +2 more
core   +2 more sources

Predicting Respiratory Complications for Day Case Paediatric Adenotonsillectomy

ANZ Journal of Surgery, EarlyView.
ABSTRACT Objectives To assess the effectiveness of a pre‐operative triaging model for paediatric adenotonsillectomy in identifying risk of early post‐operative respiratory complications, in order to propose an evidence‐based triaging model for day‐case paediatric adenotonsillectomy.
Clemente Chia, Alicia Leong, Jinzi Bai, Paul Paddle   +3 more
wiley   +1 more source