The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation.
This is the first report of prenatal diagnosis of a fetus with brachio-oto-renal dysplasia (BOR) syndrome with right-sided renal agenesis and severe left hypoplasia. The father of this fetus had malformed external ears, a left-sided preauricular pit and branchial cyst, and bilateral mild to moderate deafness without a demonstrable renal anomaly. This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis.
Greenberg
C R
CR
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Trevenen
C L
CL
Evans
J A
JA
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001934:Branchial Region; D003638:Deafness / Q000175:diagnosis; D004423:Ear / Q000002:abnormalities* / Q000473:pathology; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography