OCULO-AURICULO-VERTEBRAL SPECTRUM: CLINICAL FEATURES IN A COHORT OF 37 PATIENTS

  • Irina RESMERIȚĂ “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • B.M. COBZEANU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Setalia POPA “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Eva-Cristiana GAVRIL “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Violeta MARTINIUC “Cuza-Vodă” Clinical Hospital of Obstetrics and Gynecology, Iasi, Romania
  • Mihaela GRĂMESCU “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • E.V. GORDUZA “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • Cristina RUSU “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Abstract

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving structures derived from the first and second pharyngeal arches.  The phenotype is clinically heterogeneous and is characterized by abnormal development of the ear, mandible, and defects of the vertebral spine. Material and methods: We performed a retrospective study on a group of 88 patients with various forms of external ear malformations and hearing loss. All patients were assessed for chromosomal abnormalities using karyotype and SALSA MLPA kits. Results: Of the 88 patients enrolled in the study, 37 (42.5%) were diagnosed with oculo-auriculo-vertebral spectrum based on clinical criteria. The main clinical findings were: microtia, preauricular tags and sinuses, epibulbar dermoids, mandibular hypoplasia, micrognathia, hearing loss and vertebral abnormalities. Conclusions: The causes, significant phenotypic heterogeneity, and variations in management make difficult creating evidence-based guidelines for diagnosis and management of this complex disorder.

Author Biographies

Irina RESMERIȚĂ, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

B.M. COBZEANU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Surgery (II)

Setalia POPA, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

Eva-Cristiana GAVRIL, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

Mihaela GRĂMESCU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

E.V. GORDUZA, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

Cristina RUSU, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

References

1. Paul MA, Opyrchal J, Knakiewicz M, et al. Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease. J Craniofac Surg 2020; 31(8): 2123-2127.
2. Taiwo AO. Classification and Management of Hemifacial Microsomia: A Literature Review. Ann Ib Postgrad Med 2020; 18(1): S9-S15.
3. Bogusiak K, Puch A, Arkuszewski P. Goldenhar syndrome: current perspectives. World J Pediatr 2017; 13(5): 405-415.
4. Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia). Orthod Craniofac Res 2007; 10(3): 121-128
5. Brandstetter KA, Patel KG. Craniofacial Microsomia. Facial Plast Surg Clin North Am 2016; 24(4): 495-515.
6. Bergamini LL, Spineli-Silva S, Felix TM, et al. Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases. Congenit Anom (Kyoto) 2021; 61(5): 148-158.
7. Salvado A, Rodriguez K, Guarisco JL. Hemifacial microsomia. J La State Med Soc 2003; 155(3): 136-141.
8. Berker N, Acaroglu G, Soykan E. Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J 2004; 45(1): 157-160.
9. Sireteanu A, Popescu R, Braha EE, et al. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability. Revista Romana de Medicina de La-borator 2014; 22(2): 157-164.
10. Caba L, Rusu C, Plaiasu t, et al. Ring autosomes: some unexpected findings. Balkan J Med Genet 2012; 15(2): 35-46
11. Resmerita I, Cozma RS, Popescu R, et al. Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review. Genes (Basel) 2020; 11(12): 1506.
12. Pereira AR, Grangeiro CHP, Pereira LC, Leao LL, Guarato JCC. Oculo-Auriculo-Vertebral Spectrum Associated with Aberrant Subclavian Artery in an Infant with Recurrent Respiratory Distress. Rev Paul Pediatr 2021; 40: e2020153.
13. Khera D, Agarwal S, Kumar P, Singh K. Case of oculo-auriculo-vertebral spectrum: rare clinical features. BMJ Case Rep 2021; 14(3): e234181.
14. Maryanchik I, Nair MK. Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports. Oral Surg Oral Med Oral Pathol Oral Radiol 2018; 126(4): e233-e239.
15. Vento AR, LaBrie RA, Mulliken JB. The O.M.E.N.S. classification of hemifacial microsomia. Cleft Palate Craniofac J 1991; 28(1): 68-76.
16. Horgan JE, Padwa BL, LaBrie RA, Mulliken JB. OMENS-Plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia. Cleft Palate Craniofac J 1995; 32(5): 405-412.
17. Poon CC, Meara JG, Heggie AA. Hemifacial microsomia: use of the OMENS-Plus classification at the Royal Children's Hospital of Melbourne. Plast Reconstr Surg. 2003; 111(3): 1011-1018.
18. van Nunen DP, Kolodzynski MN, van den Boogaard MJ, Kon M, Breugem CC. Microtia in the Netherlands: clinical characteristics and associated anomalies. Int J Pediatr Otorhinolaryngol 2014; 78(6): 954-959.
19. Barisic I, Odak L, Loane M, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet 2014; 22(8): 1026-1033.
20. Bragagnolo S, Colovati MES, Souza MZ, et al. Clinical and cytogenomic findings in OAV spectrum. Am J Med Genet A 2018; 176(3): 638-648.
21. Rooryck C, Souakri N, Cailley D, et al. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. Am J Med Genet A. 2010;152A(8): 1984-1989.
22. Wieczorek D, Ludwig M, Boehringer S, et al. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet 2007; 121(3-4): 369-376.
23. Werler MM, Sheehan JE, Hayes C, et al. Demographic and reproductive factors associated with hemifacial microsomia. Cleft Palate Craniofac J 2004; 41(5): 494-450.
24. Wang R, Martinez-Frias ML, Graham JM, Jr. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. J Pediatr 2002; 141(5): 611-617.
25. Vong A, Funamura J. Multidisciplinary management of oculo-auriculo-vertebral spectrum. Curr Opin Otolaryngol Head Neck Surg 2018; 26(4): 234-241.
26. Suda N, Watanabe M, Ohyama K. A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive management. World J Orthod 2006; 7(3): 299-304.
27. Renkema RW, Caron C, Wolvius EB, et al. Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients. Int J Oral Maxillofac Surg. 2018; 47(11): 1365-1372.
28. Renkema RW, and the ERNCWGoCM. European Guideline Craniofacial Microsomia. J Craniofac Surg. 2020; 31(Suppl 8): 2385-2484.
29. Tasse C, Majewski F, Bohringer S, et al. A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007; 16(1): 1-7.
30. Beck AE, Hudgins L, Hoyme HE. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet A 2005; 134(4): 359-362.
31. Stromland K, Miller M, Sjogreen L, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A 2007; 143A(12): 1317-1325.
32. Mikhail FM, Burnside RD, Rush B, et al. The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system. Genet Med 2014; 16(1): 92-100.
33. Du Q, de la Morena MT, van Oers NSC. The Genetics and Epigenetics of 22q11.2 Deletion Syn-drome. Front Genet. 2019; 10: 1365.
34. Mitchell RM, Saltzman BS, Norton SJ, et al. Hearing Loss in Children With Craniofacial Micro-somia. Cleft Palate Craniofac J 2017; 54(6): 656-663.
35. Jin L, Hao S, Fu Y, Zhang T, Wang Z. Clinical analysis based on 208 patients with microtia (espe-cially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan). Turk J Pediatr. 2010; 52(6): 582-587.
36. Luquetti DV, Brajcich MR, Stock NM, Heike CL, Johns AL. Healthcare and psychosocial experiences of individuals with craniofacial microsomia: Patient and caregivers perspectives. Int J Pediatr Otorhinolaryngol. 2018; 107: 164-175.
Published
2021-12-30