Case of the Week # 69

Philippe Jeanty, MD, PhD

March 15-April 5, 2002

Nashville, TN

This 22-week fetus has a complex cardiac anomaly. The following images were obtained at the level of the head.

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These are coronal views of the face

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The ears were normal

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And these are sagittal and parasagittal views of the face

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There are also 5 short video-clips (12  -  3  -  4  -  5)  that demonstrate the anomaly better.

What is the finding ? In this particular case since a cardiac autopsy was not performed, there is no need to find a syndrome that includes the cardiac anomaly and the anomaly at the level of the head.

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Answer

This 22-week fetus has a complex cardiac anomaly. The following images were obtained at the level of the head. They demonstrate an essentially normal brain anatomy, and in particular no evidence of holoprosencephaly.

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These are coronal views of the face. The striking finding is the poor visualization/absence of the orbit. AS usual the absence of something is harder to detect then a malformation of something. In place of the vitreous body there is some echogenic tissue. This is also better seen on the video clips.

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The ears were normal (so Goldenhar syndrome was unlikely)

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And these are sagittal and parasagittal views of the face. Again note the anophthalmia-microophthalmia-cryptophthalmia and the mid face hypoplasia. Many though this was frontal bossing and the image in indeed quite similar but in this case the mid face is hypoplastic instead of the forehead being to prominent. 

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There are also 5 short video-clips (12  -  3  -  4  -  5)  that demonstrate the anophthalmia-microophthalmia-cryptophthalmia better.

So in this case the diagnosis was simply anophthalmia-microophthalmia-cryptophthalmia and in the absence of an autopsy we cannot further differentiate the conditions. At birth the baby"s eyes could not be open.

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