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Case of the Week # 488

Dr Ho F.1, Dr Cuillier F.1, Dr J-L Alessandri.2, Pr Doray B3

January 31, 2019 - February 14, 2019

1. Department of Gynecology-Obstetrics, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
2. Department of Pediatrics, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
3. Department of Genetics, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

This patient had been referred to our hospital after incidental discovery of a mild ventricular dilation of 11-12mm. Previous personal, familial and obstetrical history was not relevant. Our US examination at 22 weeks of pregnancy revealed the following anomalies:

Images 1 and 2.

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Images 3-7.

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Images 8 and 9.

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Answer

Case report

This patient had been referred to our hospital after incidental discovery of a mild ventricular dilation of 11-12mm. Previous personal, familial and obstetrical history was not relevant. Our US examination at 22 weeks of pregnancy revealed the following anomalies:

Based on ultrasound findings, our prenatal diagnosis was Apert Syndrome, a kind of syndromic craniosynostosis. After prenatal counseling, the parents accepted to terminate the pregnancy.

This is a case of a sporadic acrocephalosyndactyly, a spectrum of syndromic craniosynostosis which encompasses Apert syndrome, Crouzon syndrome, Sarthre-Chotzen syndrome and Pfeiffer syndrome.

Images 1 and 2: 2D images showing mild ventriculomegaly , normal cavum and normal posterior fossa.

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Images 3-7: 2D and 3D images revealed abnormal face with frontal bossing with a tendancy to turribrachycephaly and hypertelorism.

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Images 8 and 9: 2D and 3D images showing complex hands syndactyly with “mitten” and “rosebud” external appearance.

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Images 10, 11 and 12: postmortem external autopsy confirmed turribrachycephaly, low set ears, hypertelorism, as well as complex hands and feet syndactyly.

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References

- Thefetus.net’s entry on Apert Syndrome by Ian Suchet https://sonoworld.com/TheFetus/page.aspx?id=2559

- Mahieu-Caputo D, Sonigo P, Amiel J, Simon I, Aubry MC, Lemerrer M, Delezoïde AL, Gigarel N, Dommergues M, Dumez Y. Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology. (2001) Fetal diagnosis and therapy. 16 (1): 10-2.
https://doi.org/10.1159/000053872
https://www.ncbi.nlm.nih.gov/pubmed/11125244

- S. Delahaye, J. P. Bernard, D. Rénier, Y. Ville. Prenatal ultrasound diagnosis of fetal craniosynostosis. (2003) Ultrasound in Obstetrics and Gynecology. 21 (4): 347.
https://doi.org/10.1002/uog.91
https://www.ncbi.nlm.nih.gov/pubmed/12704742

- Ketwaroo PD, Robson CD, Estroff JA. Prenatal Imaging of Craniosynostosis Syndromes. (2015) Seminars in ultrasound, CT, and MR. 36 (6): 453-64.
https://doi.org/10.1053/j.sult.2015.06.002
https://www.ncbi.nlm.nih.gov/pubmed/26614129

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