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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
Definitive surgical management for second branchial cleft fistula: a case series.
Reddy A, Valika T, Maddalozzo J
J Otolaryngol Head Neck Surg 2020 Aug 5;49(1):55. doi: 10.1186/s40463-020-00453-2. PMID: 32758294Free 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

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
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
The branchio-oculo-facial syndrome.
Lin AE, Losken HW, Jaffe R, Biglan AW
Cleft Palate Craniofac J 1991 Jan;28(1):96-102. doi: 10.1597/1545-1569_1991_028_0096_tbofs_2.3.co_2. PMID: 2004100

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
Sarcopenia and dysphagia: Position paper by four professional organizations.
Fujishima I, Fujiu-Kurachi M, Arai H, Hyodo M, Kagaya H, Maeda K, Mori T, Nishioka S, Oshima F, Ogawa S, Ueda K, Umezaki T, Wakabayashi H, Yamawaki M, Yoshimura Y
Geriatr Gerontol Int 2019 Feb;19(2):91-97. Epub 2019 Jan 9 doi: 10.1111/ggi.13591. PMID: 30628181
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

Therapy

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
Severity of birth defects after propylthiouracil exposure in early pregnancy.
Andersen SL, Olsen J, Wu CS, Laurberg P
Thyroid 2014 Oct;24(10):1533-40. Epub 2014 Jun 25 doi: 10.1089/thy.2014.0150. PMID: 24963758Free PMC Article
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
Ear surgery in Treacher Collins syndrome.
Marres HA, Cremers CW, Marres EH, Huygen PL
Ann Otol Rhinol Laryngol 1995 Jan;104(1):31-41. doi: 10.1177/000348949510400106. PMID: 7832540
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
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Donoghue SE, Pitt JJ, Boneh A, White SM
J Pediatr Endocrinol Metab 2018 Mar 28;31(4):451-459. doi: 10.1515/jpem-2017-0501. PMID: 29455191
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

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
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
Craniofacial development: discoveries made in the chicken embryo.
Abramyan J, Richman JM
Int J Dev Biol 2018;62(1-2-3):97-107. doi: 10.1387/ijdb.170321ja. PMID: 29616744
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
Branchial arch malformations in infants of diabetic mothers: two case reports and a review.
Johnson JP, Fineman RM
Am J Med Genet 1982 Oct;13(2):125-30. doi: 10.1002/ajmg.1320130204. PMID: 6753584

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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