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The Head being opened, and examined, it was found,

Firft, That it had no fign of any Nofe in the ufual place, nor had it any, in any other place of the Head, unlefs the double Bagg CC, that grew out of the midft of the forehead, were fome rudiment of it.
Next, That the two Eyes were united into one Double Eye, which was placed juft in the middle of the Brow, the Nofe being wanting, which fhould have feparated them, whereby the two Eye-holes in the Scull were united into one very large round hole, into the midft of which, from the Brain, entred one prety large Optick Nerve, at the end of which grew a great Double Eye; that is, that Membrane, called Sclerotis, which contained both, was one and the fame, but feemed to have a Seam, by which they were joined, to go quite round it, and the fore or pellucid part was diftinctly feparated into two Cornea’s by a white Seam that divided them. Each Cornea feemed to have its Iris, (or Rain-bow-like Circle) and Apertures or Pupils diftinct; and upon opening the Cornea, there was found within it two Balls, or Cryftalline Humours, very well fhaped; but the other parts of it could not be fo well diftinguifhed, becaufe the eye had been much bruifed by the handling, and the inner parts confufed and diflocated. It had four Eye-browes, placed in the manner exprft in Figure 4. by a a, bb; aa reprefenting the lower, and bb, upper Eyelids.
Laftly, That juft above the Eyes, as it were in the midft of the Forehead, was a very deep depreffion, and out of the midft of that grew a kind of double Purfe or Bagg, CC, conatining little or nothing it it; but to fome it feemed to be a production of the matter defigned for the Nofe, but diverted by this Monftrous Conception; perhaps the Procffus mammillares joined into one, and covered with a thin hairy skin.

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This is probably the oldest published description of Holoprosencephaly.

It is a pity that the Honourable Mr. Boyle and his colleagues did not open the skull and describe the deformed brain.

Scott F. Gilbert’s Developmental Biology site has this to say about holoprosencephaly…

The holoprosencephalic conditions are graded from the most severe cases (which are lethal) to mild abnormalities only recognizable by physicians looking for such things. The most severe type, where a single forebrain vesicle is formed without any evidence of division into left or right hemispheres, is cyclopia. Here, a nose-like proboscis extends over a single, medial eye (Figure 1A,B).

The entire very informative article and the accompanying figures including one on the phenotypic spectrum of holoprosencephaly can be seen here.

Coincidentally, Holoprosencephaly featured in the very first medical post in my blog.

This is a condition, at least the more severe varieties of which should be diagnosed antenatally on ultrasound especially with newer advances such as 3D and 4D ultrasonography and obstetric MRI.

A video of an antenatal ultrasonogram showing alobar holoprosencephaly can be seen here.

Here is an excellent set of images of holoprosencephaly diagnosed on fetal MRI.

More articles on the diagnosis of holoprosencephaly can be read here, here and here.

And finally, here’s something that will interest my friend TJ.

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