Results 21 to 30 of about 809 (163)
Identification and functional characterization of protein domains in the transcription factor TWIST [PDF]
, 2006 Saethre-Chotzen syndrome is an autosomal dominant inherited disorder with premature fusion of cranial sutures. It is caused by nucleotide sequence changes within or in proximity of the TWIST1 gene. This gene encodes for a bHLH transcription factor, which
Kunz, Jürgen (Dr.), Singh, Shalini
core +3 more sources
Clinical Case Reports, Volume 8, Issue 9, Page 1613-1617, September 2020., 2020 Pfeiffer syndrome is a rare genetic disorder with heterogenous phenotype and prognosis. Due to its diverse clinical presentation, it can easily be misdiagnosed. Where genetic testing still remains a challenge, antenatal sonogram can aid in early diagnosis.
Insiyah Amiji +8 more
wiley +1 more source
General and oral aspects in Apert syndrome: report of a case [PDF]
, 2015 Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly.
Chimenos Küstner, Eduardo +5 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
Kleeblattschädel in Pfeiffer syndrome type II
Radiology Case Reports, 2020 Pfeiffer syndrome is an uncommon autosomal dominant disorder that results in craniosynostosis of multiple calvarial sutures with resulting abnormal facies and turribrachycephaly.
Cory M. Pfeifer, MD, MPH, MS
doaj +1 more source
Congenital malformations [PDF]
, 2012 Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2016 Apert's syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features.
Tarun Kumar +3 more
doaj +1 more source
A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female [PDF]
, 2020 Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which ...
Pooja Gaur
core +3 more sources
Apert Syndrome: orthopedic treatment [PDF]
, 2011 El Síndrome de Apert es un trastorno autosómico dominante, caracterizado por craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia de manos y pies.
Alonso Tajes, Francisco +3 more
core +2 more sources
Apert syndrome: the Paris and Rotterdam philosophy [PDF]
, 2017 Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric) +8 more
core +2 more sources