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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

Ultrasound diagnosis and treatment of branchial cleft cyst and preoperative management.
Wang FJ, Xu F, Xiao LH, Qin F, Zhang LH, Wang L, Qi XQ, Weng CY
Eur Arch Otorhinolaryngol 2024 Jan;281(1):419-425. Epub 2023 Sep 6 doi: 10.1007/s00405-023-08209-0. PMID: 37673830
Prenatal Diagnosis of Third and Fourth Branchial Apparatus Anomalies: Case Series and Comparison with Lymphatic Malformation.
Li Y, Mashhood A, Mamlouk MD, Lindan CE, Feldstein VA, Glenn OA
AJNR Am J Neuroradiol 2021 Nov;42(11):2094-2100. Epub 2021 Oct 7 doi: 10.3174/ajnr.A7293. PMID: 34620588Free PMC Article
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

Recent clinical studies

Etiology

Current approach to branchial remnants in the neck.
Vrînceanu D, Sajin M, Dumitru M, Mogoantă CA, Cergan R, Georgescu MG
Rom J Morphol Embryol 2022 Jul-Sep;63(3):485-490. doi: 10.47162/RJME.63.3.02. PMID: 36588486Free PMC Article
Congenital Neck Masses.
Pupić-Bakrač J, Pupić-Bakrač A, Novaković J, Skitarelić N
J Craniofac Surg 2021 Jun 1;32(4):1417-1420. doi: 10.1097/SCS.0000000000007122. PMID: 33170821
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
Cervical Chondrocutaneous Branchial Remnants.
Klockars T, Kajosaari L
Cleft Palate Craniofac J 2017 Mar;54(2):223-226. Epub 2015 Jul 8 doi: 10.1597/15-019. PMID: 26153756
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

Diagnosis

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
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
Branchio-oto-renal syndrome.
Jalil J, Basheer F, Shafique M
J Coll Physicians Surg Pak 2014 May;24(5):367-8. PMID: 24848399

Therapy

Resection of Second, Third, and Fourth Branchial Cleft Anomalies with Recurrent or Repeated Neck Infection Using the Selective Neck Dissection Technique.
Ning Y, Li C, Wang X, Zhu G, Cai Y, Jang J, Sun R, Liu D, Sheng J
ORL J Otorhinolaryngol Relat Spec 2020;82(2):59-66. Epub 2020 Feb 24 doi: 10.1159/000501893. PMID: 32092758
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
First branchial arch abnormality: diagnostic dilemma and excision with facial nerve preservation.
Joice P, Sudarshan T, Hussain SS
J Laryngol Otol 2012 Sep;126(9):918-22. Epub 2012 Jul 12 doi: 10.1017/S0022215112001508. PMID: 22784993
The role of serotonin and neurotransmitters during craniofacial development.
Moiseiwitsch JR
Crit Rev Oral Biol Med 2000;11(2):230-9. doi: 10.1177/10454411000110020601. PMID: 12002817
The fetal ductus arteriosus, a review.
Brezinka C, Gittenberger-de Groot AC, Wladimiroff JW
Zentralbl Gynakol 1993;115(10):423-32. PMID: 8273432

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
Second branchial cleft anomalies in children: a literature review.
Shen LF, Zhou SH, Chen QQ, Yu Q
Pediatr Surg Int 2018 Dec;34(12):1251-1256. Epub 2018 Sep 24 doi: 10.1007/s00383-018-4348-8. PMID: 30251021
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
Syndromes of the first and second pharyngeal arches: A review.
Passos-Bueno MR, Ornelas CC, Fanganiello RD
Am J Med Genet A 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. PMID: 19610085

Clinical prediction guides

Branchial cleft anomalies: hybrid "Branchial Inclusion" theory.
Pupić-Bakrač J, Skitarelić N, Pupić-Bakrač A, Baraka I, Srzentić M, Novaković J, Terkeš V
Eur Arch Otorhinolaryngol 2021 Jul;278(7):2593-2601. Epub 2021 Jan 11 doi: 10.1007/s00405-020-06551-1. PMID: 33427915
Third or fourth branchial pouch sinus lesions: a case series and management algorithm.
Li Y, Lyu K, Wen Y, Xu Y, Wei F, Tang H, Chen S, Wang Z, Zhu X, Wen W, Lei W
J Otolaryngol Head Neck Surg 2019 Nov 11;48(1):61. doi: 10.1186/s40463-019-0371-6. PMID: 31711544Free PMC Article
Neural crest and the origin of species-specific pattern.
Schneider RA
Genesis 2018 Jun;56(6-7):e23219. doi: 10.1002/dvg.23219. PMID: 30134069Free PMC Article
Syndromes of the first and second pharyngeal arches: A review.
Passos-Bueno MR, Ornelas CC, Fanganiello RD
Am J Med Genet A 2009 Aug;149A(8):1853-9. doi: 10.1002/ajmg.a.32950. PMID: 19610085
Further delineation of the branchio-oculo-facial syndrome.
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P
Am J Med Genet 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. PMID: 7747785

Recent systematic reviews

A Systematic Literature Review to Compare Clinical Outcomes of Different Surgical Techniques for Second Branchial Cyst Removal.
Meijers S, Meijers R, van der Veen E, van den Aardweg M, Bruijnzeel H
Ann Otol Rhinol Laryngol 2022 Apr;131(4):435-444. Epub 2021 Jun 17 doi: 10.1177/00034894211024049. PMID: 34137276Free PMC Article
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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