Results 41 to 50 of about 1,422,626 (192)
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero. Case report: A 39-year-old
Sayo Kubo +6 more
doaj +1 more source
International Journal of Cancer, EarlyView.ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie +12 more
wiley +1 more source
Familial treacher collins syndrome- from an obstetrician’s view [PDF]
, 2021 A number of genetic syndromes have been identified and can be diagnosed antenatally using ultrasonography signifying the importance of antenatal care.
Saini, Rizul +2 more
core +1 more source
Sex Differences in Congenital Aural Atresia: A Systematic Review and Meta‐Analysis
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To evaluate sex differences in the diagnosis and management of congenital aural atresia (CAA). Data Sources PubMed, SCOPUS, CINAHL, Cochrane Library. Review Methods A comprehensive literature search was conducted from inception through January 2026.
Angelica M. Walker +4 more
wiley +1 more source
Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid
Revista Paulista de Pediatria, 2015 Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome,
José Fernando Polanski +2 more
doaj +1 more source
Caring for Rare Genetic Disease: A Vision for the Future
Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.ABSTRACT The United Nations, 2021 resolution to promote and protect the human rights of the estimated 300 million People Living with a Rare Disease and their families, set a milestone worldwide. At the same time, the successful diagnostic results of large genomic initiatives are reshaping rare disease healthcare in many countries.
Ruth Horn +2 more
wiley +1 more source
Integration of children with Treacher Collins syndrome into preschool education
, 2021 The bachelor thesis aims to describe the integration of children with Treacher Collins syndrome into the preschool education. The bachelor thesis is divided into theoretical and practical part.
MAJEROVÁ, Adéla
core
Treacher Collins syndrome and implications in the oral cavity [PDF]
, 2020 Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as ...
Duque, C., Cardoso, Inês Lopes
core +1 more source
Special Care in Dentistry, Volume 46, Issue 5, September/October 2026.ABSTRACT Aims To assess and compare the cephalometric characteristics of patients with nonsyndromic microtia. Methods and Results This cross‐sectional comparative study evaluated the cephalometric characteristics of 16 patients with nonsyndromic microtia and 48 patients without microtia (n = 48).
Cléuber Roberto PEIXOTO +6 more
wiley +1 more source