Results 11 to 20 of about 790 (167)
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
Periodontology 2000, Volume 93, Issue 1, Page 327-339, October 2023., 2023 Abstract When bone is limited, short, ultra‐short, or narrow implants help to restore oral rehabilitation with an acceptable long‐term outcome. This becomes more difficult with severe vertical bone loss. Guided bone regeneration, onlay block transplantation, or sandwich osteotomy have been established to build up these defects.
Hans‐Joachim Nickenig +2 more
wiley +1 more source
Andrology, Volume 11, Issue 6, Page 973-986, September 2023., 2023 Abstract Background The increase in paternal age and the percentage of births after assisted reproductive technologies (ART) may have consequences on offspring and society's position regarding access to ART must be questioned. Most countries recommend limiting ART to men under 60 years. What is the rationale for this threshold?
Annabelle Gourinat +4 more
wiley +1 more source
Métodos de avaliação cognitiva de pacientes com Síndrome de Apert e de Crouzon [PDF]
, 2023 Introduction: Bilateral Coronal Craniosynostosis implies a decrease in the Cranial Perimeter (CP) in the anteroposterior axis (Brachycephaly) and is frequently associated with an increase in the cephalocaudal (vertical height) axis of the skull ...
Astolfi, Gustavo Henrique Blumer +4 more
core +4 more sources
Acta Paediatrica, Volume 112, Issue 6, Page 1312-1318, June 2023., 2023 Abstract Aim The aim of the study was to describe the clinical manifestations of 22q11.2 deletion syndrome patients in the Finnish paediatric population. Methods Nationwide registry data including all diagnoses and procedures of every public hospital in Finland between 2004 and 2018 along with mortality and cancer registry data were retrieved. Patients
Sakari Wahrmann +3 more
wiley +1 more source
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022 Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short‐ and long‐term outcomes and ...
Rafat Mosalli +5 more
wiley +1 more source
Apert's syndrome: A rare craniofacial disorder
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2020 Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet.
Prajakta C Khelkar +3 more
doaj +1 more source
Female infant with apert syndrome and high imperforate anus without fistula
Journal of Pediatric Surgery Case Reports, 2021 Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly.
Setya Mithra Hariastuti +3 more
doaj +1 more source
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