Case report of a pacient with supposed Frontonasal Dysplasia: The complexity of diagnosing
DOI:
https://doi.org/10.33448/rsd-v13i2.45010Keywords:
Craniofacial abnormalities; Encephalocele; Genetic counseling.Abstract
Frontonasal dysplasia represents a set of malformations that affect the eyes, nose and frontal region of the face. In this study, the objective was to report the clinical case of a 46,XY male patient, who presented characteristics of frontonasal dysplasia, with malformations of the face and skull, as well as the difficulty of correct diagnosis. The patient presented with congenital malformation of the neural tube (sphenoethmoidal encephalocele), agenesis of the corpus callosum, infantile spasm, chorioretinal scar, craniofacial anomalies including: incomplete median preforamen cleft, rare Tessier cleft 0-14, colpocephaly, midface retrusion, anteverted nostril; delay in motor development, reduced visual acuity (convergent strabismus in the left eye), dysphagia in the oral phase, telangiectasias in the cheeks and posterior portion of the leg, autism, phimosis, neurogenic bladder, varus foot corrected with a splint. The etiology has not been defined, due to the diagnostic complexity and accessibility to genetic tests, but the patient presents a well-defined condition within the spectrum of frontonasal dysplasias: agenesis of the corpus callosum, basal encephalocele, ocular anomalies and midline fissure. In this case, genetic counseling provides the family with accessible knowledge about the condition so that it can contribute to empowerment and access to treatments that improve the patient's overall health.
References
Achar, S. V., & Dutta, H. K. (2016). Sincipital encephaloceles: a study of associated brain malformations. Journal of clinical imaging science, 6(2), 1-5. 10.4103/2156-7514.183040
Ainuz, B. Y., Wolfe, E. M., & Wolfe, S. A. (2021). Surgical management of a mild case of frontonasal dysplasia: a case report and review of literature. Cureus, 13(1), 1-5. 10.7759/cureus.12821
Bertola, D. R., Rodrigues, M. G., Quaio, C. R., Kim, C. A., & Passos‐Bueno, M. R. (2013). Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. American journal of medical genetics Part A, 161(3), 600-604. 10.1002/ajmg.a.35762.
Crane-Smith, Z., De Castro, S. C., Nikolopoulou, E., Wolujewicz, P., Smedley, D., Lei, Y., & Greene, N. D. (2023). A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele. Human Molecular Genetics, 32(17), 2681–2692. 10.1093/hmg/ddad094.
Dashti, P., Lewallen, E. A., Gordon, J. A., Montecino, M. A., Davie, J. R., Stein, G. S., & van Wijnen, A. J. (2024). Epigenetic regulators controlling osteogenic lineage commitment and bone formation. Bone, 117043. 10.1016/j.bone.2024.117043.
Farlie, P. G., Baker, N. L., Yap, P., & Tan, T. Y. (2016). Frontonasal dysplasia: towards an understanding of molecular and developmental aetiology. Molecular syndromology, 7(6), 312-321. 10.1159/000450533.
Gallagher, L., Ray, A., & Gudis, D. A. (2023). Congenital Encephaloceles. In Skull Base Reconstruction: Management of Cerebrospinal Fluid Leaks and Skull Base Defects (pp. 177-189). Cham: Springer International Publishing.
Lee, S. I., & Joo, H. S. (2019). Frontonasal dysplasia: A case report. Archives of Craniofacial Surgery, 20(6), 397-400. 10.7181/acfs.2019.00570.
Lehalle, D., Altunoglu, U., Bruel, A. L., Arnaud, E., Blanchet, P., Choi, J. W., & Faivre, L. (2017). Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. American Journal of Medical Genetics Part A, 173(12), 3136-3142. 10.1002/ajmg.a.38490.
Liao, J., Huang, Y., Wang, Q., Chen, S., Zhang, C., Wang, D., & Chen, G. (2022). Gene regulatory network from cranial neural crest cells to osteoblast differentiation and calvarial bone development. Cellular and Molecular Life Sciences, 79(3), 158. 10.1007/s00018-022-04208-2.
Lourenço, C., Godinho, C., Marinho, M., Melo, M., Nogueira, R., & Valente, F. (2021). Prenatal diagnosis of isolated frontonasal dysplasia: A case report. Journal of Clinical Ultrasound, 49(2), 145-148.
Merchán-Hamann, E., & Tauil, P. L. (2021). Proposta de classificação dos diferentes tipos de estudos epidemiológicos descritivos. Epidemiologia e Serviços de Saúde, 30(1), 1-13. 10.1590/s1679-49742021000100026.
Miller, K. A., Walma, D. A. C., Pinkas, D. M., Tooze, R. S., Bufton, J. C., Richardson, W., & Bullock, A. N. (2024). BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Journal of Medical Genetics 0, 1-12. 10.1136/jmg-2023-109531
Ribeiro‐Bicudo, L. A., Quiezi, R. G., Guion‐Almeida, M. L., Legnaro, C., & Richieri‐Costa, A. (2012). Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies. American Journal of Medical Genetics Part A, 158(5), 1233-1235. 10.1002/ajmg.a.35305
Richieri-Costa, A., & Guion-Almeida, M. L. (2004). The syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies–phenotypic and aetiological considerations. International Journal of Medical Sciences, 1(1), 34-42. 10.7150/ijms.1.34
Rüegg, E. M., Bartoli, A., Rilliet, B., Scolozzi, P., Montandon, D., & Pittet-Cuénod, B. (2019). Management of median and paramedian craniofacial clefts. Journal of Plastic, Reconstructive & Aesthetic Surgery, 72(4), 676-684. 10.1016/j.bjps.2019.01.001
Sedano, H. O., Cohen, M. M., Jirasek, J., & Gorlin, R. J. (1970). Frontonasal dysplasia. The Journal of pediatrics, 76(6), 906-913. 10.1016/s0022-3476(70)80374-2
Thompson, H. M., Schlosser, R. J., Walsh, E. M., Cho, D. Y., Grayson, J. W., Karnezis, T. T., & Woodworth, B. A. (2020). Current management of congenital anterior cranial base encephaloceles. International journal of pediatric otorhinolaryngology, 131, 109868. 10.1016/j.ijporl.2020.109868
Virupakshaiah, A., Teixeira, S. R., Sotardi, S., Liu, G., & Agarwal, S. (2023). Frontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy. Child Neurology Open, 10, 1-4. 10.1177/2329048X231157
Yankee, T. N., Oh, S., Winchester, E. W., Wilderman, A., Robinson, K., Gordon, T., & Cotney, J. (2023). Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. Nature Communications, 14(1), 4623. 10.1038/s41467-023-40363-1.
Ye, Y., Jiang, Z., Pan, Y., Yang, G., & Wang, Y. (2022). Role and mechanism of BMP4 in bone, craniofacial, and tooth development. Archives of Oral Biology, 140, 105465. 10.1016/j.archoralbio.2022.10546.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Aline Nardelli; Larissa Valéria Laskoski; Ana Cláudia Mahl Brum; Luciana Paula Grégio d'Arce
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
