BOR Syndrome
A Medical View

Differential Diagnosis
There are various other branchio-dysplasis syndromes. (Types I- III) along with branchio-oto-dysplasia and oto-renal dysplasia, all showing autosomal dominant transmission and overlapping in some of their clinical features, making the differential diagnosis at times very difficult. Further studies are needed to better understand this group of branchial arch syndromes. Several families have been reported with congenital dominantly inherited cup shaped ears without hearing loss.

Recently, it was reported that the adult nephrology community should be advised that BOR Syndrome might be the cause of adult onset renal failure. The study then confirmed that BOR Syndrome is a misdiagnosed disorder usually recognized in the presence of severe renal failure and/or severe hearing loss.


Management
If the diagnosis of BOR syndrome is known or suspected in an individual, the following are recommended:
* A complete assessment of auditory acuity using ABR, emission testing and pure tone audiometry.
* A CAT scan to rule out enlarged vestibular aqua ducts or Mondini's malformations, which occur in approximately 30% of people with BOR syndrome.
* Fitting with appropriate habilitation as indicated.
* Enrolment in an appropriate educational program for the hearing impaired.
* Computed tomography of the temporal bones, especially if there is evidence of progressive hearing impairment.
* Full kidney screening (urine, bloods and ultrasounds) followed up with yearly urinalysis if no issues are uncovered.

Audio logical and kidney tests should be repeated if symptoms appear or yearly, especially associated with growth spurts as the problems associated with ear/kidney malformations can change during rapid periods of growth.


Associated defects
* Long narrow faces.
* Facial paralysis.
* Cysts/ fistulas of the neck.
* Constricted palates/ Cleft.
* Deep overbite.
* Ear pits.
* Lop ear deformity.
* Low set ears.
* Preauricular tags.
* Balance problems due to middle ear malformations.
* Increased ear infections due to internal ear malformations.
* Myopia.
* Blocked/ absent nasolacrimal duct.
* Small kidneys.
* Double ureters.
* Renal agenesis.
* Renal dysplasia.
* Ectopic/ supernumerary kidneys.
* Hydronephrosis.
* Protein in urine due to kidney malformations.
* Increased urinary tract infections due to kidney malformations.


CLINICAL DESCRIPTION
The most common findings in BOR syndrome are otologic (90%); the second most common finding involve the second branchial arch (50%) {Chen et al 1995}.

The otologic findings include the following:
* Hearing loss (93%)
Type: mixed (52%), conductive (33%), sensorineural (29%).
Severity: mild (27%), moderate (22%), severe (33%), profound (16%).
Non-progressive (70%), progressive (30%, correlates with presence of a dilated vestibular aqueduct on computed tomography).

* Abnormalities of the pinnae: preauricular pits (82%), lop ear deformity (36%), preauricular tags (13%).

* Abnormalities of the external auditory canal: atresia or stenosis (29%).

* Middle ear abnormalities: malformation, malposition, dislocation, or fixation of the ossicles; reduction in size or malformation of the middle ear space.

* Inner ear abnormalities: cochlear hypoplasia; enlargement of the cochlear and vestibular aqueducts; hypoplasia of the lateral semicircular canal.

Second branchial arch anomalies include the following:
* Branchial cleft / cervical fistulae (50%).

Renal anomalies are common, although the true incidence is difficult to establish because not all affected persons undergo intravenous pyelography or renal ultrasonography. In a study in which 21 affected persons had one of these two tests, renal anomalies were noted in 67% of persons and included the following:

* Renal agenesis (29%), hypoplasia (19%), dysplasia (14%).

* Uretero pelvic junction (UPJ) obstruction (10%).

* Calyceal cyst/ diverticulum (10%).

* Calyectasis, pelviectasis, hydronephrosis and vesico ureteral reflux (5% each).

Renal malformations can be unilateral or bilateral and can occur in any combination. The most sever malformations result in pregnancy loss (since bilateral renal agenesis can end in miscarriage) or neonatal death; renal failure later in life also occurs and may necessitate dialysis or transplantation {Van Widdershoven et al 1983, Heimler & Lieber 1986, Ni et al 1994}.

Other findings consistent with BOR syndrome include lacrimal duct aplasia, short or cleft palate, retrognathia, euthyroid goiter, facial nerve paralysis and gustatory lacrimination {Chen et al 1995}.

 

 



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