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Ultrasound diagnosis of oculo‐auriculo‐vertebral spectrum in a mid‐trimester foetus

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A 27‐year‐old woman presented for an anomaly scan at 24 weeks' gestation. There was no family history. Examination of the amniotic fluid revealed a normal female karyotype. The two dimensional… Click to show full abstract

A 27‐year‐old woman presented for an anomaly scan at 24 weeks' gestation. There was no family history. Examination of the amniotic fluid revealed a normal female karyotype. The two dimensional (2D) sonography revealed an asymmetrical macrostomia (Tessier cleft no. 7) as a result of left lateral facial cleft (Figure 1A,B). A more significant image of left‐side macrostomia was observed by 3D sonography (Figure 1C). A preauricular tag on the left side was also noticed (Figure 1D,E). The patient eventually decided to terminate the pregnancy after consulting a maxillofacial surgeon. The stillborn foetus was found with asymmetrical macrostomia with left‐ side cleft about 0.6 cm (Figure 2A,B) and a left preauricular skin tag (Figure 2C). Therewas alsomild left hemifacialmicrosomia (Figure 2A). The circumferential narrowing at the base of the skull on the autopsy imageswas the indentation of the baby hat, not a congenital deformity. Oculo‐auriculo‐vertebral spectrum (OAVS) was characterised by alterations in craniofacial morphogenesis mainly involving structures

Keywords: foetus; figure; auriculo vertebral; vertebral spectrum; oculo auriculo

Journal Title: Prenatal Diagnosis
Year Published: 2021

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