Results 41 to 50 of about 961 (204)
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
A Case of Acrocephalosyndactyly
Journal of the Korean Orthopaedic Association, 1975 Hyang Aie Lee +2 more
openaire +2 more sources
Acrocephalosyndactyly—the coalesced hand [PDF]
Journal of Pediatric Surgery, 2003 openaire +2 more sources
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
Acrocephalosyndactyly, Apert type, in a newborn: Cerebral sonography
Journal of Ultrasound, 2007 Carlo Poggiani +3 more
exaly +3 more sources
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