Results 61 to 70 of about 6,402 (203)
Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT This case emphasizes the importance of comprehensive orthodontic and sleep evaluations in Cantù syndrome. Despite severe dento‐skeletal malocclusions, the patient exhibited low risk of obstructive sleep apnea (PSQ score < 0.33), emphasizing that craniofacial anomalies do not uniformly predict respiratory compromise.
Federica Guglielmi +3 more
wiley +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
Cumhuriyet Dental Journal, 2019 This article reports a case of Treacher Collins syndrome (TCS) in a five-year-old male patient treated in Kırıkkale University, Department of Pediatric Dentistry.
Aslı Soğukpınar, Merve Erkmen Almaz
doaj +1 more source
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
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
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births.
Alexander, Peter Sherry
doaj
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
Rwanda Medical Journal, 2022 INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire +7 more
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Ocular abnormalities in genetically deaf people [PDF]
, 2000 Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients.
Brunoni, Decio +3 more
core +3 more sources
Genetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde +8 more
wiley +1 more source