Related Experiment Videos
An infant with Crouzon's syndrome with a cartilaginous trachea and a human tail
1Department of Plastic Surgery, Maebashi Red Cross Hospital, Gunma, Japan.
Insights
Severe respiratory distress in craniosynostosis syndromes can indicate tracheal anomalies, a rare finding that complicates surgical outcomes. This case highlights the critical need for awareness of these airway issues.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Anesthesiology
Background:
- Craniosynostosis syndromes, such as Crouzon's and Pfeiffer's, involve abnormal skull and facial bone growth.
- Nasopharyngeal stenosis is a known complication, but severe respiratory distress suggests other airway issues.
Observation:
- A case of Crouzon's syndrome presented with severe airway stenosis and a caudal appendage (human tail).
- The patient experienced significant respiratory problems pre- and post-operatively.
- Autopsy revealed a completely cartilaginous trachea lacking normal rings and mucous membrane structure.
Findings:
- Tracheal anomalies, specifically a continuous tubular cartilage without rings, were identified.
- The patient died 50 days postoperatively, with squamous epithelization around the tracheostomy site.
Implications:
- Physicians should suspect tracheal anomalies in craniofacial patients with severe respiratory distress.
- Post-surgical respiratory complications are likely to be aggravated in the presence of tracheal anomalies.
- The co-occurrence of Crouzon's syndrome, tracheal anomaly, and a human tail is unprecedented in medical literature.
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.