Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.
craniofacial clefts
craniofacial microsomia
frontonasal dysplasia
oculoauriculofrontonasal syndrome
oculoauriculovertebral spectrum
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
revised:
23
05
2023
received:
13
04
2023
accepted:
26
05
2023
medline:
21
9
2023
pubmed:
7
6
2023
entrez:
7
6
2023
Statut:
ppublish
Résumé
The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.
Identifiants
pubmed: 37282829
doi: 10.1002/ajmg.a.63319
doi:
Types de publication
Review
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2493-2507Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Abdelmaaboud, M., & Nimeri, N. (2012). Pai syndrome: First reported case in Qatar and review of literature of previously published cases. BMJ Case Reports, 2012, bcr0220125940. https://doi.org/10.1136/bcr-02-2012-5940
Adolphs, N., Arnaud, E., Haberl, E.-J., Graul-Neumann, L., Schmidt, G., Menneking, H., & Hoffmeister, B. (2012). The oculo-auriculo-fronto-nasal syndrome (OAFNS) - Description of a rare and complex craniofacial deformity and its interdisciplinary management before school age. Journal of Cranio-Maxillo-Facial Surgery: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, 40(8), 668-674. https://doi.org/10.1016/j.jcms.2011.11.003
Allam, K. A., Wan, D. C., Kawamoto, H. K., Bradley, J. P., Sedano, H. O., & Saied, S. (2011). The spectrum of median craniofacial dysplasia. Plastic and Reconstructive Surgery, 127(2), 812-821. https://doi.org/10.1097/PRS.0b013e318200aa08
Allanson, J. E., Biesecker, L. G., Carey, J. C., & Hennekam, R. C. M. (2009). Elements of morphology: Introduction. American Journal of Medical Genetics. Part A, 149A(1), 2-5. https://doi.org/10.1002/ajmg.a.32601
Al-Gazali, L. I., Dawodu, A. H., Hamada, M., Bakir, M., & Bakalinová, D. (1996). Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: Severe frontofacionasal “dysplasia” or newly recognised syndrome? American Journal of Medical Genetics, 63(2), 346-347. https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<346::aid-ajmg4>3.3.co;2-p
Barisic, I., Odak, L., Loane, M., Garne, E., Wellesley, D., Calzolari, E., Dolk, H., Addor, M.-C., Arriola, L., Bergman, J., Bianca, S., Doray, B., Khoshnood, B., Klungsoyr, K., McDonnell, B., Pierini, A., Rankin, J., Rissmann, A., Rounding, C., … Tucker, D. (2014). Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: A registry-based study in Europe. European Journal of Human Genetics: EJHG, 22(8), 1026-1033. https://doi.org/10.1038/ejhg.2013.287
Bartolozzi, M., Campagna, A., Bargagli, G., & Massafra, C. (1984). The oculo-auriculo-frontonasal syndrome - A new case. In Pediatric radiology (vol. 14, no. 4, p. 258). Springer Verlag. https://doi.org/10.1007/BF01042250
Borumandi, F., Chadha, A., Dediol, E., & Uglešić, V. (2015). A diagnostic conundrum: Ectopic nasal ossification, submucosal alveolar cleft, absent posterior atlantal arch, and corpus callosum lipoma. The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association, 52(6), 761-765. https://doi.org/10.1597/14-108
Carey, J. C., & Yong, S. L. (1981). Frontonasal dysplasia and the Goldenhar syndrome: The oculo-auriculo-frontonasal syndrome. In 1981 conference on malformations and morphogenesis (March of Dimes). Dartmouth College.
Caron, C. J. J. M., Pluijmers, B. I., Wolvius, E. B., Looman, C. W. N., Bulstrode, N., Evans, R. D., Ayliffe, P., Mulliken, J. B., Dunaway, D., Padwa, B., & Koudstaal, M. J. (2017). Craniofacial and extracraniofacial anomalies in craniofacial microsomia: A multicenter study of 755 patients. Journal of Cranio-Maxillo-Facial Surgery: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, 45(8), 1302-1310. https://doi.org/10.1016/j.jcms.2017.06.001
Casey, H. D., Braddock, S. R., Haskins, R. C., Carey, J. C., & Morales, L., Jr. (1996). Frontonasal malformation and the oculoauriculovertebral spectrum: The oculoauriculofrontonasal syndrome. The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association, 33(6), 519-523. https://doi.org/10.1597/1545-1569_1996_033_0519_fmatos_2.3.co_2
Castillo, T. S., Youlton, R. R., Rojas, Z. J., & Rivera, A. L. (1983). Síndrome de Fisura Media del rostro. Revista Chilena de Pediatria, 54(6), 417-421. https://doi.org/10.4067/s0370-41061983000600006
Chen, X., Xu, F., Liu, F., Aung, Z. M., Chen, W., Han, W., Yang, X., Zhang, Y., Chai, G., & Zhang, R. (2018). Whole-exome sequencing for monozygotic twins discordant for hemifacial microsomia. Journal of Cranio-Maxillo-Facial Surgery: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, 46(5), 802-807. https://doi.org/10.1016/j.jcms.2018.02.005
Cohen, M. M. (1971). Variability versus "incidental findings" in the first and second branchial arch syndrome: Unilateral variants with anophthalmia. Birth Defects Original Article Series, 7(7), 103-108.
DeBaun, M. R., Niemitz, E. L., & Feinberg, A. P. (2003). Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. American Journal of Human Genetics, 72(1), 156-160. https://doi.org/10.1086/346031
Eckalbar, W. L., Fisher, R. E., Rawls, A., & Kusumi, K. (2012). Scoliosis and segmentation defects of the vertebrae: Scoliosis and segmentation defects. Wiley Interdisciplinary Reviews. Developmental Biology, 1(3), 401-423. https://doi.org/10.1002/wdev.34
Evans, K. N., Gruss, J. S., Khanna, P. C., Cunningham, M. L., Cox, T. C., & Hing, A. V. (2013). Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome. American Journal of Medical Genetics. Part A, 161A(6), 1345-1353. https://doi.org/10.1002/ajmg.a.35926
Ewart-Toland, A., Yankowitz, J., Winder, A., Imagire, R., Cox, V. A., Aylsworth, A. S., & Golabi, M. (2000). Oculoauriculovertebral abnormalities in children of diabetic mothers. American Journal of Medical Genetics, 90(4), 303-309.
Fleischer-Peters, A. (1969). Das Goldenhar-Syndrom unter besonderer Berücksichtigung der Kiefermissbildungen. Deutsche Zahnarztliche Zeitschrift, 24(6), 545-551.
Fontaine, G., Walbaum, R., Poupard, B., Bonte, C., Dhellemmes, P., Maquet, E., Ythier, H., & Stevenard, C. (1983). La dysplasie fronto-nasale (a propos de quatre observations). Journal de Génétique Humaine, 31(5), 351-365.
Gabbett, M. T., Robertson, S. P., Broadbent, R., Aftimos, S., Sachdev, R., & Nezarati, M. M. (2008). Characterizing the oculoauriculofrontonasal syndrome. Clinical Dysmorphology, 17(2), 79-85. https://doi.org/10.1097/mcd.0b013e3282f449c8
Gawrych, E., Janiszewska-Olszowska, J., & Chojnacka, H. (2014). Oculoauriculovertebral spectrum with a full range of severe clinical manifestations-Case report. Journal of Cranio-Maxillo-Facial Surgery: Official Publication of the European Association for Cranio-Maxillo-Facial Surgery, 42(8), 2064-2068. https://doi.org/10.1016/j.jcms.2011.10.010
Golabi, M., Gonzales, M. C., & Edwards, M. S. (1983). A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: The oculoauriculofrontonasal syndrome. Two new cases in sibs. Birth Defects, 19(5), 183-184.
Gordon, C. T., Weaver, K. N., Zechi-Ceide, R. M., Madsen, E. C., Tavares, A. L., Oufadem, M., Kurihara, Y., Adameyko, I., Picard, A., Breton, S., Pierrot, S., Biosse-Duplan, M., Voisin, N., Masson, C., Bole-Feysot, C., Nitschké, P., Delrue, M. A., Lacombe, D., Guion-Almeida, M. L., … Amiel, J. (2015). Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics, 96(4), 519-531. https://doi.org/10.1016/j.ajhg.2015.01.015
Guida, V., Calzari, L., Fadda, M. T., Piceci-Sparascio, F., Digilio, M. C., Bernardini, L., Brancati, F., Mattina, T., Melis, D., Forzano, F., Briuglia, S., Mazza, T., Bianca, S., Valente, E. M., Salehi, L. B., Prontera, P., Pagnoni, M., Tenconi, R., Dallapiccola, B., … Gentilini, D. (2021). Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS). International Journal of Molecular Sciences, 22(3), 1190. https://doi.org/10.3390/ijms22031190
Guimiot, F., Marcorelles, P., Aboura, A., Bonyhay, G., Patrier, S., Menez, F., Drouin-Garraud, V., Icowick, V., Eurin, D., Garel, C., Moirot, H., Verspyck, E., Saugier-Veber, P., Attie-Bitach, T., Picone, O., Oury, J. F., Verloes, A., Delezoide, A. L., & Laquerrière, A. (2009). Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister-Hall syndrome. American Journal of Medical Genetics. Part A, 149A(6), 1108-1115. https://doi.org/10.1002/ajmg.a.32859
Guion-Almeida, M. L., & Lopes, V. L. (1997). Oculoauriculofrontonasal spectrum in an adult Brazilian male. Clinical Dysmorphology, 6(3), 251-255. https://doi.org/10.1097/00019605-199707000-00009
Guion-Almeida, M. L., & Richieri-Costa, A. (2006). Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: A possible "new" autosomal recessive syndrome? American Journal of Medical Genetics. Part A, 140(22), 2478-2481. https://doi.org/10.1002/ajmg.a.31518
Guion-Almeida, M. L., & Richieri-Costa, A. (2010). Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis. American Journal of Medical Genetics. Part A, 152A(8), 2039-2042. https://doi.org/10.1002/ajmg.a.33485
Guion-Almeida, M. L., Mellado, C., Beltrán, C., & Richieri-Costa, A. (2007). Pai syndrome: Report of seven South American patients. American Journal of Medical Genetics. Part A, 143A(24), 3273-3279. https://doi.org/10.1002/ajmg.a.31962
Guion-Almeida, M. L., Richieri-Costa, A., Saavedra, D., & Cohen, M. M., Jr. (1996). Frontonasal dysplasia: Analysis of 21 cases and literature review. International Journal of Oral and Maxillofacial Surgery, 25(2), 91-97. https://doi.org/10.1016/s0901-5027(96)80048-8
Guion-Almeida, M. L., Vendramini-Pittoli, S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2009). Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome? American Journal of Medical Genetics. Part A, 149A(12), 2762-2764. https://doi.org/10.1002/ajmg.a.32816
Guion-Almeida, M. L., Zechi-Ceide, R. M., Vendramini, S., & Tabith Júnior, A. (2006). A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clinical Dysmorphology, 15(3), 171-174. https://doi.org/10.1097/01.mcd.0000220603.09661.7e
Gupta, J. S., Gupta, S. D., & Prashar, S. K. (1968). Oculo-auricular cranial dysplasia. The British Journal of Ophthalmology, 52(4), 346-347. https://doi.org/10.1136/bjo.52.4.346
Gustavson, E. E., & Chen, H. (1985). Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure. Teratology, 32(1), 13-17. https://doi.org/10.1002/tera.1420320103
Hansen, M., Kurinczuk, J. J., Milne, E., de Klerk, N., & Bower, C. (2013). Assisted reproductive technology and birth defects: A systematic review and meta-analysis. Human Reproduction Update, 19(4), 330-353. https://doi.org/10.1093/humupd/dmt006
Huang, L., Vanstone, M. R., Hartley, T., Osmond, M., Barrowman, N., Allanson, J., Baker, L., Dabir, T. A., Dipple, K. M., Dobyns, W. B., Estrella, J., Faghfoury, H., Favaro, F. P., Goel, H., Gregersen, P. A., Gripp, K. W., Grix, A., Guion-Almeida, M. L., Harr, M. H., … Lines, M. A. (2016). Mandibulofacial dysostosis with microcephaly: Mutation and database update. Human Mutation, 37(2), 148-154. https://doi.org/10.1002/humu.22924
Huckstadt, V., Heis Mendoza, M. E., Moresco, A., & Obregon, M. G. (2018). Síndrome de Pai: Dos nuevos casos con manifestaciones inusuales. Archivos Argentinos de Pediatría, 116(2), e336-e340. https://doi.org/10.5546/aap.2018.e336
Ignacio Rodríguez, J., Palacios, J., & Lapunzina, P. (1993). Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex. American Journal of Medical Genetics, 47(1), 69-74. https://doi.org/10.1002/ajmg.1320470115
Ishmael, H. A., Begleiter, M. L., Regier, E. J., & Butler, M. G. (2002). Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male. American Journal of Medical Genetics, 107(2), 169-173. https://doi.org/10.1002/ajmg.10120
Ito, R., Osawa, M., Yamamoto, Y., Murao, N., Hayashi, T., Maeda, T., Ishikawa, K., Oyama, A., & Funayama, E. (2019). Oculo-auriculo-fronto-nasal syndrome with Duane retraction syndrome and dysplastic bony structure in the midline of nose. The Journal of Craniofacial Surgery, 30(6), e576-e578. https://doi.org/10.1097/SCS.0000000000005636
Johal, J., Loukas, M., Fisahn, C., Chapman, J. R., Oskouian, R. J., & Tubbs, R. S. (2016). Hemivertebrae: A comprehensive review of embryology, imaging, classification, and management. Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery, 32(11), 2105-2109. https://doi.org/10.1007/s00381-016-3195-y
Johnson, J. M., Benoit, B., Pierre-Louis, J., Keating, S., & Chitayat, D. (2005). Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound. Ultrasound in Obstetrics & Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 25(2), 184-186. https://doi.org/10.1002/uog.1792
Joos, U., & Anastassov, G. E. (1998). Treatment of craniofacial midline clefts in association with hamartomas: Report of three cases. Journal of Oral and Maxillofacial Surgery: Official Journal of the American Association of Oral and Maxillofacial Surgeons, 56(3), 383-392. https://doi.org/10.1016/s0278-2391(98)90121-5
Kennedy, D. S., Vaughan, J., & Watson, G. (1998). The oculoauriculofrontonasal syndrome: A new case with correlation of antenatal ultrasound features and postmortem findings. Australian Birth Defects Society Inc.
Lehalle, D., Altunoglu, U., Bruel, A.-L., Assoum, M., Duffourd, Y., Masurel, A., Baujat, G., Bessieres, B., Captier, G., Edery, P., Elçioğlu, N. H., Geneviève, D., Goldenberg, A., Héron, D., Grotto, S., Marlin, S., Putoux, A., Rossi, M., Saugier-Veber, P., … Faivre, L. (2018). The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. American Journal of Medical Genetics. Part A, 176(12), 2740-2750. https://doi.org/10.1002/ajmg.a.40662
Lehalle, D., Bruel, A. L., Vitobello, A., Denommé-Pichon, A. S., Duffourd, Y., Assoum, M., Amiel, J., Baujat, G., Bessieres, B., Bigoni, S., Burglen, L., Captier, G., Dard, R., Edery, P., Fortunato, F., Geneviève, D., Goldenberg, A., Guibaud, L., Héron, D., … Faivre, L. (2022). Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. American Journal of Medical Genetics. Part A, 188(7), 2036-2047. https://doi.org/10.1002/ajmg.a.62739
Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., Horn, D., Kini, U., Caliebe, A., Alanay, Y., Utine, G. E., Lev, D., Kohlhase, J., … Boycott, K. M. (2012). Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. American Journal of Human Genetics, 90(2), 369-377. https://doi.org/10.1016/j.ajhg.2011.12.023
Luquetti, D. V., Hing, A. V., Rieder, M. J., Nickerson, D. A., Turner, E. H., Smith, J., Park, S., & Cunningham, M. L. (2013). "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: Expanding the phenotype. American Journal of Medical Genetics. Part A, 161A(1), 108-113. https://doi.org/10.1002/ajmg.a.35696
Morice, A., Galliani, E., Amiel, J., Rachwalski, M., Neiva, C., Thauvin-Robinet, C., Vazquez, M. P., Picard, A., & Kadlub, N. (2019). Diagnostic criteria in Pai syndrome: Results of a case series and a literature review. International Journal of Oral and Maxillofacial Surgery, 48(3), 283-290. https://doi.org/10.1016/j.ijom.2018.08.010
Musarella, M. A., & Young, I. D. (1986). A patient with median cleft face anomaly and bilateral goldenhar anomaly. American Journal of Medical Genetics, 25(S2), 135-141. https://doi.org/10.1002/ajmg.1320250617
Naidich, T. P., Osborn, R. E., Bauer, B., & Naidich, M. J. (1988). Median cleft face syndrome: MR and CT data from 11 children. Journal of Computer Assisted Tomography, 12(1), 57-64.
Ortiz Monasterio, F., Fuente del Campo, A., & Dimopulos, A. (1987). Nasal clefts. Annals of Plastic Surgery, 18(5), 377-397. https://doi.org/10.1097/00000637-198705000-00004
Pai, G. S., Levkoff, A. H., & Leithiser, R. E., Jr. (1987). Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. American Journal of Medical Genetics, 26(4), 921-924. https://doi.org/10.1002/ajmg.1320260421
Propping, P. (2008). Assisted reproduction: An important review of the literature on the risk of malformation after in vitro fertilization and intracytoplasmic sperm injection. Deutsches Arzteblatt International, 105(1-2), 9-10. https://doi.org/10.3238/arztebl.2008.0009
Rahimov, F., Ribeiro, L. A., de Miranda, E., Richieri-Costa, A., & Murray, J. C. (2006). GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum? American Journal of Medical Genetics. Part A, 140(23), 2571-2576. https://doi.org/10.1002/ajmg.a.31370
Renkema, R. W., Caron, C. J. J. M., Mathijssen, I. M. J., Wolvius, E. B., Dunaway, D. J., Forrest, C. R., Padwa, B. L., & Koudstaal, M. J. (2017). Vertebral anomalies in craniofacial microsomia: a systematic review. International Journal of Oral and Maxillofacial Surgery, 46(10), 1319-1329. https://doi.org/10.1016/j.ijom.2017.04.025
Richieri-Costa, A., & Guion-Almeida, M. L. (2009). Nonsyndromic alar clefts: Report of five Brazilian patients. American Journal of Medical Genetics. Part A, 149A(12), 2765-2767. https://doi.org/10.1002/ajmg.a.32845
Rollnick, B. R., Kaye, C. I., Nagatoshi, K., Hauck, W., & Martin, A. O. (1987). Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. American Journal of Medical Genetics, 26(2), 361-375. https://doi.org/10.1002/ajmg.1320260215
Román Corona-Rivera, J., López-Marure, E., Gómez-Ruíz, L., Carmen Abreu-Fernández, M. D., Quezada-López, C., Pérez-Molina, J., & Santibañez-Escobar, L. P. (2007). Airway anomalies in the oculoauriculofrontonasal syndrome. Clinical Dysmorphology, 16(1), 43-45. https://doi.org/10.1097/MCD.0b013e328010d402
Rosenstein, S. W. (1971). 16 pathological and congenital disturbances: The orthodontic viewpoint. Journal of the American Dental Association (1939), 82(4), 871-875. https://doi.org/10.14219/jada.archive.1971.0128
Sedano, H. O., & Gorlin, R. J. (1988). Frontonasal malformation as a field defect and in syndromic associations. Oral Surgery, Oral Medicine, and Oral Pathology, 65(6), 704-710. https://doi.org/10.1016/0030-4220(88)90014-x
Serigatto, H. R., Kokitsu-Nakata, N. M., Moura, P. P., Vendramini-Pittoli, S., Virmond, L. A., Peixoto, A. P., Tonello, C., Brito, L. A., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2023). Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome. Clinical Dysmorphology, 32(1), 21-24. https://doi.org/10.1097/MCD.0000000000000434
Sitzmann, F. C., & Schuch, P. (1965). Das Goldenhar-Syndrom: Bericht über zwei weitere Fälle (Halbseitige Gesichtshypoplasie mit multiplen Missbildungen des ersten Visceralbogens und-furche). Zeitschrift für Kinderheilkunde, 93, 40-45.
Tanna, N., Wan, D. C., Perry, A. D., Kawamoto, H. K., & Bradley, J. P. (2012). Paramedian mandibular cleft: Revisiting the Tessier classification. The Journal of Craniofacial Surgery, 23(1), e38-e40. https://doi.org/10.1097/SCS.0b013e318241db58
Tarateta, A., Reboa, E., & Buffoni, L. (1978). Median cleft face syndrome. Descrizione di un caso. Minerva Pediatrica, 30(1), 53-60.
Tasse, C., Böhringer, S., Fischer, S., Lüdecke, H.-J., Albrecht, B., Horn, D., Janecke, A., Kling, R., König, R., Lorenz, B., Majewski, F., Maeyens, E., Meinecke, P., Mitulla, B., Mohr, C., Preischl, M., Umstadt, H., Kohlhase, J., Gillessen-Kaesbach, G., & Wieczorek, D. (2005). Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. European Journal of Medical Genetics, 48(4), 397-411. https://doi.org/10.1016/j.ejmg.2005.04.015
Tenconi, R., & Hall, B. D. (1983). Hemifacial microsomia: Phenotypic classification, clinical implications and genetic aspects. In Treatment of Hemifacial Microsomia (pp. 39-49). Alan R. Liss.
Tessier, P. (1976). Anatomical classification of facial, cranio-facial and latero-facial clefts. Journal of Maxillofacial Surgery, 4, 69-92. https://doi.org/10.1016/s0301-0503(76)80013-6
Tillman, H. H. (1967). Mandibulofacial dysostosis: Report of three cases. Oral Surgery, Oral Medicine, Oral Pathology, 23(5), 638-647.
Tingaud-Sequeira, A., Trimouille, A., Sagardoy, T., Lacombe, D., & Rooryck, C. (2022). Oculo-auriculo-vertebral spectrum: New genes and literature review on a complex disease. Journal of Medical Genetics, 59(5), 417-427. https://doi.org/10.1136/jmedgenet-2021-108219
Toriello, H. V., Higgins, J. V., & Mann, R. (1995). Oculoauriculofrontonasal syndrome: Report of another case and review of differential diagnosis. Clinical Dysmorphology, 4(4), 338-346. https://doi.org/10.1097/00019605-199510000-00010
Tormey, P., Bilic Cace, I., & Boyle, M. A. (2017). Ocular dermoid in Pai Syndrome: A review. European Journal of Medical Genetics, 60(4), 217-219. https://doi.org/10.1016/j.ejmg.2017.01.008
Trainor, P. A., & Andrews, B. T. (2013). Facial dysostoses: Etiology, pathogenesis and management. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 163C(4), 283-294. https://doi.org/10.1002/ajmg.c.31375
Tunc, T., Polat, A., Altan, B., Yapici, A. K., Saldir, M., Sari, S., Sari, E., Bayram, Y., & Eski, M. (2017). Oculoauriculofrontonasal dysplasia syndrome with additional clinical features. The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association, 54(6), 749-753. https://doi.org/10.1597/15-078
Van Meter, T. D., & Weaver, D. D. (1996). Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism. Clinical Dysmorphology, 5(3), 187-196.
Vendramini-Pittoli, S., Guion-Almeida, M. L., Santos, J. M., Garcia Júnior, S. M., Yoshida, M. M., Richieri-Costa, A., & Kokitsu-Nakata, N. M. (2015). An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: Report on two cases. Clinical Dysmorphology, 24(4), 144-150. https://doi.org/10.1097/mcd.0000000000000085
Wieczorek, D. (2013). Human facial dysostoses. Clinical Genetics, 83(6), 499-510. https://doi.org/10.1111/cge.12123
Wieczorek, D., Ludwig, M., Boehringer, S., Jongbloet, P. H., Gillessen-Kaesbach, G., & Horsthemke, B. (2007). Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Human Genetics, 121(3-4), 369-376. https://doi.org/10.1007/s00439-007-0336-0
Witters, I., Schreurs, J., Van Wing, J., Wouters, W., & Fryns, J. P. (2001). Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum. Prenatal Diagnosis, 21(1), 62-64. https://doi.org/10.1002/1097-0223(200101)21:1<62::aid-pd969>3.0.co;2-y
Wu, E., Vargevik, K., & Slavotinek, A. M. (2007). Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. American Journal of Medical Genetics. Part A, 143A(24), 3069-3078. https://doi.org/10.1002/ajmg.a.31963
Yano, S., Fujimoto, A., Morin-Leisk, J., Matumoto, N., Miyake, N., Gillespie, M., & Gao, H. (2018). New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. Clinical Genetics, 94(5), 487-488. https://doi.org/10.1111/cge.13436
Zhao, J., Yan, Y., Huang, X., & Li, Y. (2020). Do the children born after assisted reproductive technology have an increased risk of birth defects? A systematic review and meta-analysis. The Journal of Maternal-Fetal & Neonatal Medicine: The Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 33(2), 322-333. https://doi.org/10.1080/14767058.2018.1488168