Branchio-oto-renal syndrome

The branchio-oto-renal syndrome associates anomalies of the outer ear (Atrésie or Sténose of the external auditory canal or intern, Pertuis pre auricular) with a deafness of perception, of transmission or mixed. It is light or deep and generally present at the birth, of the cysts or the dents of the branchiaux Arcs and the kidneys going of the renal hypoplasy to the bilateral sterility of the kidneys. The severity and the type of anomaly of the ears, the branchiaux arcs, and the anomalies of the kidneys are very variable in the same family. The anomalies touch the right-sided and the left side in a different way and inside the same family. An impaired renal function requiring the recourse to the kidney machine appears at some individuals.

Diagnosis

The suspicion of diagnosis is primarily clinical:

Three clinical signs must be present in the event of absence of family antecedents.
Two clinical signs are enough in the event of family antecedents.
the absence of renal anomaly must remake to consider the diagnosis

Private clinic

The diagnosis is based on the following clinical criteria:

Loss of the audtition (Deafness of transmission of perception or mixed)
auricular Sluice
Ears deformed
Dent on the way of the branchiaux arcs
renal Anomalies

Genetics

the sequencing and genic amplification find in 40% of the cases of changes of gene EYA1

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 113650 * Richard JH Smith, Branchiootorenal Syndrome in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005 ===Références===

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