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Wolf-Hirschhorn Syndrome

Am J Dis Child. 1971;121(3):265. doi:10.1001/archpedi.1971.02100140131020.
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To the Editor.—The purpose of this brief communication is to correct an error of a previous paper.

Recently Coffin1 described a syndrome characterized by unusual facies due to prominent forehead and eyes, strabismus, and large low-set ears, associated also with lax joints, pes cavus, mild spasticity, convulsions, retarded bone age, low birth weight, slow growth, and mental retardation. Chromosomes from these patients were reported then as normal, following analyses by two laboratories. Reexamination now shows that two of the three children have partial deletion of the short arm of a No. 4 chromosome (4p-) as described earlier in reports of the Wolf-Hirschhorn syndrome.2,3

These two children are patients 2 (Figure, at left) and 3 (at center) in the paper cited above. Patient 1 (at right) resembles the other children; however, chromosome analyses from both blood and skin cultures show no deletion and are normal in all respects.


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