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Apert syndrome - prenatal findings

Case contributed by Dr Fabien Ho

Presentation

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.

Patient Data

Age: 22 weeks' gestation
Gender: Male
Ultrasound

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.

Case Discussion

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.

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