Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Se la conosci la riconosci

La sindrome di Treacher Collins

Erika Apuril1,2, Milena Mariani1, Angelo Selicorni1

1UOC di Pediatria, Centro Fondazione Mariani per il Bambino Fragile, ASST Lariana, Como
2Scuola di Specializzazione in Genetica Medica, Università di Milano

Settembre 2024 - pagg. 458 -459 | DOI: 10.53126/MEB43458

a cura di Angelo Selicorni
Parole chiave
Treacher Collins syndrome
Suggerite dall'AI
Ipoacusia trasmissiva
Classificazione MeSH
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Musculoskeletal Abnormalities Craniofacial Abnormalities Maxillofacial Abnormalities Jaw Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Eye Abnormalities Coloboma (4)
Sense Organs Ear Ear, External Ear Auricle (3)
Body Regions Head Face Eye Eyelids (3)
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Sensation Disorders Hearing Disorders Hearing Loss
Musculoskeletal Diseases Bone Diseases Bone Diseases, Developmental Dysostoses Craniofacial Dysostosis Mandibulofacial Dysostosis (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Musculoskeletal Abnormalities Craniofacial Abnormalities Maxillofacial Abnormalities Jaw Abnormalities
TCOF1 protein, human
Nervous System Diseases Trauma, Nervous System Craniocerebral Trauma Facial Injuries Maxillofacial Injuries Zygomatic Fractures
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Mandibulofacial Dysostosis/Goldenhar Syndrome, Ear Auricle/Ear, External, Micrognathism, Hearing Loss, Conductive
RI Articolo speciale
Malocclusioni in età pediatrica
Ravaglia A, Defabianis P, Borraccino A. · 2026
Mandibulofacial Dysostosis/Craniofacial Abnormalities
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La sindrome di Koolen-De Vries
Bergo E, Selicorni A. · 2026
Micrognathism
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Cazzaniga L, Abramo M, Selicorni A. · 2024
Contenuto riservato

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Bibliografia
di riferimento • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2020 Aug 20]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: www.ncbi.nlm.nih.gov/books/NBK1532/. • Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes (Basel) 2021;12(9):1392. doi: 10.3390/genes12091392. • Plomp RG, van Lieshout MJS, Joosten KFM, et al. Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations. Plast Reconstr Surg 2016;137(1):191-204. doi: 10.1097/PRS.0000000000001896. • Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J  2000;37:434.  • Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004;12(11):879-90. doi:10.1038/sj.ejhg.5201260. • Sanchez E, Laplace-Builhé B, Mau-Them FT, et al. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med 2020;22(3):547-56. doi: 10.1038/s41436-019-0669-9.

Corrispondenza: angelo.selicorni61@gmail.com