Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

Abstract

The authors report a case of difficult nosological classification. The patient, a 4-year-old female shows facial asymmetry, preauricular tags, anterior displacement of the anus and rib anomalies. Some of these clinical signs are present both in the Goldenhar syndrome and in the Townes-Brocks syndrome.

• Authors: O Gabrielli, V Bonifazi, A M Offidani, A Cellini, G V Coppa, P L Giorgi
• Journal: Minerva pediatrica (Minerva Pediatr) Vol. 45 Issue 11 Pg. 459-62 (Nov 1993) ISSN: 0026-4946 [Print] Italy
• PMID: 8133838 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Anal Canal (abnormalities)
• Audiometry
• Child, Preschool
• Cranial Nerves (physiopathology)
• Diagnosis, Differential
• Ear, External (abnormalities)
• Female
• Goldenhar Syndrome (diagnosis)
• Hearing Loss, Sensorineural (diagnosis, physiopathology)
• Humans
• Middle Lobe Syndrome (diagnosis)