ABNORMAL SHAPE OF THE EAR  

 

 

  1. Cup-shaped ear:

·        Small auricles that grow forward over the meatus.

·        Male-to-male transmission has been described; associated with Pierre Robin anomalad. (1).

 

 

 

 

  1. Lop-ear:

·        The external ear is angulated away from the head at an increased angle (Normal angle of the auricle to the median plane averages 25 degrees in males and 18 degrees in females).

·        Autosomal dominant in some cases.

·        Associated anomalies:

                                                                                                   i.      Ehlers-Danlos syndrome (hyperextensible joints, hip dislocation, lop ear, unusual facies).

                                                                                                 ii.      Towns-Brocks syndrome (lop ears, imperforate anus, VSD, limb anomalies, hypoplastic kidney).

 

 

 

 

  1. Dysplastic ear:

·        Usually associated with chromosomal anomalies.

                                                                                                   i.      Trisomy 13.

                                                                                                 ii.      Anencephaly.

                                                                                                iii.      Diastrophic dysplasia (cauliflower deformity due to cystic degeneration of the pinna).

                                                                                               iv.      Antley-Bixler syndrome (hypoplastic dysplastic ears, radiohumeral synostosis, joint contractures, brachycephaly).

                                                                                                 v.      Treacher-Collins syndrome (crumpled, small hypoplastic ears with no helix or anti-helix).

 

 

 

 

 

 

 

 

Dysplastic Ear

  • Dysplastic pinna.
  • Absent external auditory canal.

 

 

 

 

Slight malformation of the pinna.

 

Normal karyotype

 

No evidence of a syndrome post-natally

 

 

 

  1. Elfin (pointed) ear.
  2. Lobe malformations:

·        Adherent lobe.

·        Absent lobe (seen in Seckel syndrome).

·        Cleft lobe (coloboma). Longitudinal cleft, which usually extends through the incisura but may be partial.

  1. Malformed ear:

·        Goldenhar-Gorlin Syndrome.

 

 

 

REFERENCES
  1. Peterson DM, Schimke RN. Hereditary cup-shaped ears and the Pierre Robin syndrome. J Med Genet 1968;5:52-55.
  2. Aase JM. Microtia - clinical observations. Birth Defects 1980;16:289.
  3. Livingstone G. Congenital meatal atresia. Proc R Soc Med 1964;57:1176.
  4. Livingstone G. Congenital ear abnormalities due to thalidomide. Proc R Soc Med 1965;58:493.
  5. Warkany J. Congenital malformations: notes and comments. Chicago: Year Book Medical Publishers, 1971:401.