An infant with Crouzon's syndrome with a cartilaginous trachea and a human tail

Abstract

Due to abnormal three-dimensional growth of facial and skull bones, certain craniosynostosis syndromes are occasionally accompanied by nasopharyngeal stenosis. However, two cases of Crouzon's and Pfeiffer's syndromes have been reported in which respiratory distress was more severe, compared with the usual respiratory problems in craniofacial anomalies. In both cases, tracheal anomalies were present and manifested by a completely cartilaginous trachea, without rings. The author reports herein a case of Crouzon's syndrome accompanied by serious airway stenosis which was a problem both before and after surgery and a caudal appendage (human tail). The patient suddenly died at home 50 days postoperatively. Autopsy revealed that instead of having rings, the tracheal cartilage had a continuous tubular structure. The normal mucous membrane structure was absent, and squamous epithelization developed around the margins of the tracheostomy. When craniofacial anomalies are accompanied by severe respiratory disorder, physicians must be aware of a possible tracheal anomaly. There is a high probability of aggravated respiratory problems after surgery. There have been no reports in the literature of Crouzon's syndrome accompanied by a human tail.