Results 41 to 50 of about 5,244 (207)
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
Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers. [PDF]
, 2016 PurposeWe present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2.
Akil, Handan +5 more
core +3 more sources
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
Síndrome de Apert: características clínicas e radiográficas e relato de caso [PDF]
PURPOSE: Apert syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.
COSTA, Claudio +3 more
core +1 more source
Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]
, 2016 First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C. +12 more
core +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
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +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
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
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