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2000-03-31-05 Answer of case of the week #22 © Olavarría

Answer to Case #22

March 31-April 14, 2000

Submitted by Sosa Olavarría, A. MD, PhD, Luis Díaz Guerrero, MD, García M.MD, Pereira D. MD, Martines M.MD, Perinatology Unit, Carabobo University, Valencia – Venezuela. [email protected] Part of the discussion by Philippe Jeanty

This section of the face (vertex to the right) demonstrates the eye and the very prominent supraorbital ridge. Although this may not be obvious at first, the baby picture below demonstrates the finding very well.

These are the two feet, not hands, and the large sandal gap and the widened interdigital gaps.

A cross section through the tibial metaphysis demonstrates a fairly wide bone.

This is a clenched hand next to the face.

A narrow chest:

The newborn. Note the prominent brows and the micrognathia. The hand is just visible at the edge of the image.

And the mom (the eyes are masked for privacy reasons). Same coarse facial features and prominent supraorbital ridges.

The baby and the mom"s wide tibial metaphyses.

The child"s chest film demonstrates ribbon-like twisted ribs.

Disorganized fingers...

and widened interdigital space at the level of the feet.

This was a very challenging case, and there was not a good way that I found to approach it. The authors had the benefit of having the radiological diagnosis of the mother, but let us see what we could do without the knowledge of the maternal condition.


There were a variety of findings (the prominent supraorbital ridge, the clenched fist, the sandal gap, a narrow chest). The baby and mom pictures were notable for the coarse facial features and the prominent supraorbital ridge again. The X-ray demonstrated flaring of the metaphysis.

Approach to the diagnosis

Of all these finding the most unusual was the “prominent supraorbital ridge”. However this was not a very useful criterion in the search. Those keywords gave no match with OMIM and in Medline, only one article (Whistling face syndrome) came up. The whistling face syndrome has many of the findings of the current syndrome but lacks the metaphyseal anomalies.

So I returned to pre-computerized information and in the Smith’s book there is a section on prominent supraorbital ridge which includes several 11 conditions of which the following were quite similar to the findings:

  • Borjeson-Forsman-Lehmann syndrome *
  • Coffin-Lowry syndrome
  • Frontometaphyseal dysplasia *
  • Langer-Giedion syndrome
  • Metaphyseal chondrodysplasia *
  • Oto-palato-digital syndrome *
  • Pyle metaphyseal dysplasia *

Another differential diagnosis was Freeman Sheldon syndrome.

I am not really sure that I could have gone past these. Interestingly searching OMIM on “prominent brow” did not provide any further information but “prominent supraciliary ridge” immediately suggested frontometaphyseal dysplasia, which was the final diagnosis.

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