Results 31 to 40 of about 2,286 (158)
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
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
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
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome
Disease Models & Mechanisms, 2013 SUMMARY Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2).
Neus Martínez-Abadías +6 more
doaj +1 more source
Understanding exosomes in regenerative dentistry
Periodontology 2000, EarlyView.Abstract Background Regenerative dentistry is shifting from cell‐based strategies to cell‐free biologics capable of orchestrating intricate tissue repair. Exosomes, nanosized extracellular vesicles carrying bioactive molecular payloads, have emerged as central modulators of intercellular communication.
Paras Ahmad +2 more
wiley +1 more source
Apert Syndrome Presenting with Omphalocele [PDF]
Journal of Krishna Institute of Medical Sciences University, 2019 Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar +4 more
doaj
Controversies Surrounding Critical‐Size Defects: Influence of Age and Biological Characteristics
Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 114, Issue 6, June 2026.ABSTRACT Critical‐size defects (CSDs) in craniofacial reconstruction refer to osseous gaps that fail to heal spontaneously, increasing the risk of neurological impairment and craniofacial dysmorphology. Despite decades of investigation, controversy still exists surrounding the definition of CSDs, with criteria varying across species, experimental ...
Andrew Nordlund +7 more
wiley +1 more source
Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome
Maxillofacial Plastic and Reconstructive Surgery, 2018 Background A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery
Bong Kuen Cha +6 more
doaj +1 more source