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Apert syndrome: craniofacial challenges and clinical implications.
BMJ Case Rep
July 2024
Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India.
Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterised by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, as a result of which signals are not received to produce necessary fibrous material necessary for normal cranial sutures. Deformities are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc, so a multidisciplinary approach is needed for their management.
View Article and Find Full Text PDFSurgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome.
J Craniofac Surg
January 2022
Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Crouzon syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with variants in fibroblast growth factor receptor 2. Here the authors described a Crouzon syndrome case, which was asked for surgery treatment for the symptom of multisuture craniosynostosis. Mild midfacial retrusion, larger head circumference, proptosis, pseudo-prognathism, and dental malposition could also be found obviously.
View Article and Find Full Text PDFAcro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.
Am J Med Genet A
July 2013
Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro-osteolysis, diffuse keloid-like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth.
View Article and Find Full Text PDF[Pseudoprognathism frequency and masseter muscle activity in operated cleft lip patients].
Rev Med Chil
September 2000
Departamento de Fisiología, Facultad de Ciencias Biológicas, Universidad de Concepeción y Unidad de Fisurados, Hospital Regional de Concepción, Guillermo Grant Benavente, Chile.
Background: As a consequence of a growth inhibition of middle third of the face, cleft lip surgery could lead to a pseudoprognathism. However, this is not always the case. Also, when facial architecture is changed, the activity of muscles such as the masseter could be disturbed.
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