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Branchial arch or oral-acral syndrome

MedGen UID:
1826092
•Concept ID:
C5680620
•
Disease or Syndrome
Orphanet: ORPHA139036

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBranchial arch or oral-acral syndrome

Professional guidelines

PubMed

Congenital aural malformations: diagnosis and treatment.
Bellucci RJ
Otolaryngol Clin North Am 1981 Feb;14(1):95-124. PMID: 7254848
Bilateral facial microsomia. Diagnosis, classification, treatment.
Converse JM, Wood-Smith D, McCarthy JG, Coccaro PJ, Becker MH
Plast Reconstr Surg 1974 Oct;54(4):413-23. doi: 10.1097/00006534-197410000-00005. PMID: 4412188
Branchial arteritis in the aortic arch syndrome. A roentgen and differential diagnostic study.
EDLING NP, NYSTROM B, SELDINGER SI
Acta Radiol (Stockh) 1961 Jun;55:417-32. doi: 10.3109/00016926109175138. PMID: 13725722

Recent clinical studies

Etiology

Collaural fistula: Our experience.
Narang E, Tyagi S, Jain N, Singh J
Trop Doct 2023 Oct;53(4):517-519. Epub 2023 Jun 18 doi: 10.1177/00494755231181424. PMID: 37331986
Second Branchial Cleft Fistula.
Chandola S, Jana M
AJR Am J Roentgenol 2023 Mar;220(3):443. Epub 2022 Aug 24 doi: 10.2214/AJR.22.28266. PMID: 36000668
Congenital Neck Masses.
Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Branchial cleft anomalies and thymic cysts.
Prosser JD, Myer CM 3rd
Otolaryngol Clin North Am 2015 Feb;48(1):1-14. doi: 10.1016/j.otc.2014.09.002. PMID: 25442127
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Diagnosis

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C
J Med Genet 2022 May;59(5):417-427. Epub 2022 Feb 2 doi: 10.1136/jmedgenet-2021-108219. PMID: 35110414
Craniofacial Microsomia.
Birgfeld C, Heike C
Clin Plast Surg 2019 Apr;46(2):207-221. doi: 10.1016/j.cps.2018.12.001. PMID: 30851752
Congenital Neck Masses.
Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Branchial arch syndromes.
Alfi D, Lam D, Gateno J
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):167-73. Epub 2014 Jul 15 doi: 10.1016/j.cxom.2014.04.003. PMID: 25171997
Pediatric neck masses.
Geddes G, Butterly MM, Patel SM, Marra S
Pediatr Rev 2013 Mar;34(3):115-24; quiz 125. doi: 10.1542/pir.34-3-115. PMID: 23457198

Therapy

Spontaneous closure of branchial sinus of the pyriform fossa.
Liu Z, Mohd Slim MA, Jackson C, Trimble K
BMJ Case Rep 2018 May 14;2018 doi: 10.1136/bcr-2017-223691. PMID: 29764823Free PMC Article
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Endoscopic fibrin sealing of congenital pyriform sinus fistula.
Cigliano B, Cipolletta L, Baltogiannis N, Esposito C, Settimi A
Surg Endosc 2004 Mar;18(3):554-6. doi: 10.1007/s00464-003-4253-6. PMID: 15115008
The fetal ductus arteriosus, a review.
Brezinka C, Gittenberger-de Groot AC, Wladimiroff JW
Zentralbl Gynakol 1993;115(10):423-32. PMID: 8273432
Clonazepam and branchial myoclonus.
Gledhill RF, Wiles CM
Ann Neurol 1977 Mar;1(3):306-7. doi: 10.1002/ana.410010323. PMID: 889323

Prognosis

Congenital Neck Masses.
Ryu J, Igawa T, Mohole J, Coward M
Neoreviews 2023 Oct 1;24(10):e642-e649. doi: 10.1542/neo.24-10-e642. PMID: 37777610
Congenital Neck Masses.
Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417
Branchial cleft anomalies and thymic cysts.
Prosser JD, Myer CM 3rd
Otolaryngol Clin North Am 2015 Feb;48(1):1-14. doi: 10.1016/j.otc.2014.09.002. PMID: 25442127
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Fourth branchial fistula.
Liston SL
Otolaryngol Head Neck Surg 1981 Jul-Aug;89(4):520-2. doi: 10.1177/019459988108900402. PMID: 6793958

Clinical prediction guides

Orthognathic Surgery in Goldenhar Syndrome With a Rare Course of the IAN.
Moreno SD, Niloy IL, Kim PM, English MC
J Craniofac Surg 2023 Jan-Feb 01;34(1):295-301. Epub 2022 Aug 11 doi: 10.1097/SCS.0000000000008889. PMID: 35949011
An unexpected cyst of the ear lobule.
Shehan JN, Levi JR
Am J Otolaryngol 2021 Jul-Aug;42(4):102976. Epub 2021 Feb 16 doi: 10.1016/j.amjoto.2021.102976. PMID: 33610922
Auriculo-condylar syndrome: additional patients.
Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Kokitsu-Nakata NM
Am J Med Genet 2002 Oct 1;112(2):209-14. doi: 10.1002/ajmg.10631. PMID: 12244558
The fetal ductus arteriosus, a review.
Brezinka C, Gittenberger-de Groot AC, Wladimiroff JW
Zentralbl Gynakol 1993;115(10):423-32. PMID: 8273432
Cervical thymic cyst.
Sanusi ID, Carrington PR, Adams DN
Arch Dermatol 1982 Feb;118(2):122-4. PMID: 6800306

Recent systematic reviews

Management of Nasopharyngeal Cyst of Second Branchial Cleft Origin: Case Series and Systematic Review.
Vinciguerra A, Verillaud B, Kaci R, Guichard JP, Herman P
Laryngoscope 2022 Oct;132(10):1904-1908. Epub 2022 Apr 2 doi: 10.1002/lary.30126. PMID: 35366007
Neonatal respiratory distress due to a third or fourth branchial pouch sinus: A systematic review.
Fockens MM, Hoekstra CEL
Int J Pediatr Otorhinolaryngol 2021 Dec;151:110922. Epub 2021 Sep 9 doi: 10.1016/j.ijporl.2021.110922. PMID: 34525447
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Surgery versus endoscopic cauterization in patients with third or fourth branchial pouch sinuses: A systematic review.
Derks LS, Veenstra HJ, Oomen KP, Speleman L, Stegeman I
Laryngoscope 2016 Jan;126(1):212-7. Epub 2015 Sep 15 doi: 10.1002/lary.25321. PMID: 26372400
Management of congenital third branchial arch anomalies: a systematic review.
Nicoucar K, Giger R, Jaecklin T, Pope HG Jr, Dulguerov P
Otolaryngol Head Neck Surg 2010 Jan;142(1):21-28.e2. Epub 2009 Nov 25 doi: 10.1016/j.otohns.2009.09.001. PMID: 20096218

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