Abstract
A 39-year-old woman, gravida 3, para 1, was referred to level II ultrasound at 16w5d of gestation with suspected midline facial anomaly, as detected at routine obstetrics scan. The parents were non-consanguineous, with uneventful medical and family history. First-trimester screening for Down syndrome showed a low risk for common trisomies. A normal fetal biometry and anatomy were observed. The ultrasound examination showed a fetus with BPD (biparietal diameter) and a BPD/FOD (fronto-occipito diameter) <5th centile and a BPD/FL <3rd centile for expected gestational age.
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References
Sedano HO, Cohen MM Jr, Jirasek J, Gorlin RJ. Frontonasal dysplasia. J Pediat 1976:906–13.
Sedano HO, Gorlin RJ. Frontonasal malformation as a field defect and in syndromic associations. Oral Sur Oral Med Oral Path 1988;65:704–10.
Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. Acromelic frontonasal “dysplasia”: further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). Am J Med Genet 1992;42:180–3.
Toriello HV, Radecki LL, Sharda J, Looyenga D, Mann R. Frontonasal “dysplasia,” cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. Am J Med Genet Suppl 1986;2:89–96.
Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr. Frontonasal dysplasia: analysis of 21 cases and literature review. Int J Oral Maxillofac Surg 1996;25:91–7.
Tonni G, Lituania M, Bonasoni MP, De Felice C. Prenatal ultrasound and histological diagnosis of fetal nasal glioma (heterotopic central nervous system tissue): report of a new case and review of the literature. Arch Gynecol Obstet. 2011;283 Suppl 1:55–9.
Tonni G, Centini G, Inaudi P, Rosignoli L, Ginanneschi C, De Felice C. Prenatal diagnosis of severe epignathus in a twin: case report and review of the literature. Cleft Palate Craniofac J. 2010;47:421–5.
Tonni G, De Felice C, Centini G, Ginanneschi C. Cervical and oral teratoma in the fetus: a systematic review of etiology, pathology, diagnosis, treatment and prognosis. Arch Gynecol Obstet. 2010;282:355–66.
Dee CT, Szymoniuk CR, Mills PE. Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. Hum Mol Genet. 2013;22:239–51.
Corbacioglu A, Kalelioglu I, Kayserili H, Yuksel A, Has R. Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele. J Turkish-German Gynecol Assoc. 2013;14:50–2.
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Lituania, M., Tonni, G. (2017). Acromelic Frontonasal Dysplasia (Median Cleft Face Syndrome). In: Tonni, G., Sepulveda, W., Wong, A. (eds) Prenatal Diagnosis of Orofacial Malformations. Springer, Cham. https://doi.org/10.1007/978-3-319-32516-3_15
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DOI: https://doi.org/10.1007/978-3-319-32516-3_15
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