Results 41 to 50 of about 6,877 (203)
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
Zbrinjavanje dišnoga puta uz direktnu laringoskopiju u djeteta s Goldenharovim sindromom [PDF]
, 2016 Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital condition characterized by facial, cranial, vertebral, ocular, auricular and cardiac abnormalities.
Bibiana Vitković, Morena Milić
core +2 more sources
Neural crest cell-derived VEGF promotes embryonic jaw extension [PDF]
, 2015 Jaw morphogenesis depends on the growth of Meckel’s cartilage during embryogenesis. However, the cell types and signals that promote chondrocyte proliferation for Meckel’s cartilage growth are poorly defined.
Christiana Ruhrberg +7 more
core +1 more source
Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction
Advanced Functional Materials, EarlyView.Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch +13 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
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
American Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello +29 more
wiley +1 more source
Indian Journal of Plastic Surgery, 1984 SummaryA case of treacher-collin syndrome (Mandibulo facial dysostosis) is reported.
Rajendra N. Sharma, Tara Chandra
openaire +2 more sources
A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome
International Journal of Gynecology &Obstetrics, Volume 172, Issue 2, Page 1258-1260, February 2026.Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci +5 more
wiley +1 more source