Apert syndrome - prenatal findings
This patient had been referred to our hospital after the incidental discovery of a mild ventricular dilation of 11-12 mm. Previous personal, familial and obstetrical history is non-relevant.
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Images 1 and 2 revealed mild ventricular dilation, normal cavum, and normal posterior fossa.
Images 3-7 revealed an abnormal face with frontal bossing with a tendancy to turribrachycephaly and hypertelorism. Images 8 and 9 revealed complex syndactyly with “mitten” and “rosebud” external appearance.
Our prenatal diagnosis was Apert Syndrome, a kind of syndromic craniosynostosis.
After prenatal counseling, the parents agreed to terminate the pregnancy. Postmortem external autopsy confirmed turribrachycephaly, low set ears, hypertelorism, as well as complex hand and feet syndactyly.
This is a case of a sporadic acrocephalosyndactyly, a spectrum of syndromic craniosynostoses which encompasses Apert syndrome, Crouzon syndrome, Saethre-Chotzen syndrome and Pfeiffer syndrome.
Thanks to Dr Fabrice Cuillier.
- Ketwaroo PD, Robson CD, Estroff JA. Prenatal Imaging of Craniosynostosis Syndromes. (2015) Seminars in ultrasound, CT, and MR. 36 (6): 453-64. doi:10.1053/j.sult.2015.06.002 - Pubmed
- Delahaye S, Bernard JP, Rénier D, Ville Y. Prenatal ultrasound diagnosis of fetal craniosynostosis. (2003) Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 21 (4): 347-53. doi:10.1002/uog.91 - Pubmed
- 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. doi:10.1159/000053872 - Pubmed
- Omim's entry on Apert Syndrome http://omim.org/entry/101200