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

O Gabrielli; V Bonifazi; A M Offidani; A Cellini; G V Coppa; P L Giorgi

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

Minerva Pediatr. 1993 Nov;45(11):459-62.

Authors

O Gabrielli¹, V Bonifazi, A M Offidani, A Cellini, G V Coppa, P L Giorgi

Affiliation

¹ Department of Pediatrics, University of Ancona, Italy.

PMID: 8133838

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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