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Case Reports: Rare disease
Advances in prenatal diagnosis of fetal otocephaly by 3D imaging
  1. Janis Kinkel,
  2. Thomas Rduch,
  3. Désirée Abgottspon and
  4. Tina Fischer
  1. Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland
  1. Correspondence to Dr Janis Kinkel; janis.kinkel@gmail.com

Abstract

The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.

A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.

We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios.

  • Pregnancy
  • Materno-fetal medicine
  • Congenital disorders

https://doi.org/10.1136/bcr-2022-249276

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    Footnotes

    • Contributors Dr JK was involved in obstetric ultrasonography and genetic amniocentesis. Furthermore Dr JK discussed the prognosis and treatment with the parents to be. After delivery Dr JK organised the follow up. Dr JK was responsible for the informed consent of the patient. After all investigations Dr JK wrote the manuscript of the case report. Dr TR was involved in diagnosis making and image editing after 3D volume acquisition. Dr TR critically revised the manuscript and approved the submitted version. Dr DA was involved in the delivery and postpartum care of the patient. She was also responsible for the literature review. Dr DA revised the manuscript as well and approved the submitted version. Dr TF was leading the obstetric ultrasound with genetic amniocentesis and amniodrainage. Dr TF led the prenatal discussion with the parents to be. Furthermore Dr TF was responsible and leading the birth. Dr TF revised the manuscript and approved the submitted version.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.