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2014-05-01-09 Answer to the case of the week #370 © Badano 

Answer to the case of the week #370

May 29, 2014 - June 12, 2014

Federico Badano, MD; Andrés Frosch, MD.

FB – Diagnóstico por Imágenes. Gualeguaychú, Entre Ríos, Argentina

Case report

A 38-year-old woman (G2P1), with non-contributive history, was referred to our institution at 26 weeks of pregnancy because of cystic structures located within the fetal abdomen. Our ultrasonographic examination revealed following findings:

- borderline cerebral ventriculomegaly;
- cloverleaf shape of the skull in oblique and coronal planes indicating craniosynostosis; 
high prominent forehead with slight frontal bossing, midfacial hypoplasia and ocular proptosis;
- relative macroglossia;
- unilateral right multicystic renal dysplasia.

According to the findings our differential diagnoses were Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, and Carpenter Syndrome.

The male newborn was delivered by Caesarean section at 38 weeks (
3010 g; Apgar score 9, 10). Postnatal examination and MRI confirmed craniosynostosis, cloverleaf¨ skull, cerebral ventriculomegaly, ocular proptosis and unilateral right multicystic kidney. No other another anomalies were found. Ventriculo-peritoneal shunt was placed at 9th day after delivery. Postnatal genetic examination of the newborn has confirmed the diagnosis of the Pfeiffer syndrome type II.

The newborn is waiting for the surgery of craniosynostosis and is doing well.

Images 1-6, video 1: The images show fetal head with mild ventriculomegaly, cloverleaf shaped skull in oblique and coronal planes (images 2, 3), high prominent forehead (images 5, 6, video 1), midfacial hypoplasia with relative macroglossia due to short maxilla (images 5, 6, video 1).



Images 7, 8: 3D images of the fetal face with high prominent forehead, midfacial hypoplasia, ocular proptosis, and mild prognathia.


Images 9-13, video 2: The images and video show unilateral multicystic kidney dysplasia and normal left kidney (image 13).




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