Results 41 to 50 of about 5,186 (188)
Infrared venography of the hand in Apert syndrome
Indian Journal of Plastic Surgery, 2013 As well as craniofacial synostosis, complex syndactyly of hands is a distinctive feature of Apert syndrome. Consideration of blood flow to the digits is very important in separation surgery.
Soh Nishimoto +5 more
doaj +1 more source
Apert syndrome: A rare case requiring multidisciplinary approach for a better living
TNOA Journal of Ophthalmic Science and Research, 2021 A 7-year-old boy presented with watering, prominent eyes and defective vision. He had brachycephaly, hypertelorism, shallow proptotic orbits, large exotropia, and syndactyly of the hands and feet.
Sasikala A Elizabeth +1 more
doaj +1 more source
Oral findings in patients with Apert Syndrome Achados bucais em pacientes com Síndrome de Apert
Journal of Applied Oral Science, 2006 INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface ...
Gisele da Silva Dalben +2 more
doaj +1 more source
Mechanical properties of calvarial bones in a mouse model for craniosynostosis [PDF]
, 2015 The mammalian cranial vault largely consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Premature closure of the cranial sutures, craniosynostosis, can lead to serious clinical pathology unless ...
Babbs, Christian +4 more
core +4 more sources
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld +6 more
wiley +1 more source
The Journal of the Association of Physicians of India, 2015 Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.
Saikat, Datta +4 more
+6 more sources
Fibroblast growth factor signaling in skeletal development and disease [PDF]
, 2015 Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
core +2 more sources
Culture: Not just Burns – what about the poet Robert Fergusson? [PDF]
, 2016 No abstract ...
Bismarck F Hernández-Álvarez +8 more
core +3 more sources
Orthodontics &Craniofacial Research, EarlyView.ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis +9 more
wiley +1 more source
National Journal of Clinical Anatomy, 2015 Apert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births.
A Barman, B C Dutta, J K Sarkar
doaj +1 more source