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American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 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
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
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
American Journal of Human Biology, Volume 38, Issue 2, February 2026.ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 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
Journal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen +3 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
Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]
, 2018 Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush +3 more
core +1 more source
Research advances in Apert syndrome
Journal of Oral Biology and Craniofacial Research, 2018 Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures.
Satrupa Das, Anjana Munshi
doaj +1 more source