A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho‐rhino‐phalangeal syndrome type II (TRP II) or Langer‐Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1.
In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discussion.