Severe Renal Dysgenesis Produced by a Dominant Gene

The BOR syndrome and renal agenesis‐prenatal diagnosis andfurther clinical delineation

“…The most likely explanation for both these offsprings' renal malformations is the BOR syndrome with severe kidney involvement. Unlike the severely affected offspring described by Fitch and Srolovitz (1976), the affected 19-week fetus reported here had no visible auricular or branchial arch anomalies and only meticulous histology sectioning revealed branchial arch anomalies. Although auditory impairment may have become apparent had this fetus gone to term and survived, the absence of external ear anomalies is most unusual.…”

Syndromic foramina parietalia permagna

“…Criteria that allow categorization of the BS are facial characteristics and renal abnormalities. Facial anomalies of branchiooto (BO) [Rowley, 1969;Melnick et al, 1978], branchiooto-renal (BOR) [Fitch and Srolovitz, 1976;Melnick et al, 1976Melnick et al, , 1978Fraser et al, 1980;Widdershoven et al, 1983;Heimler and Lieber, 1986], branchio-otoureternal (BOU) [Fraser et al, 1983] and branchial X-linked arch (BA) syndromes [Toriello et al, 1985] are malar hypoplasia, micrognathism, downward slanting palpebral fissures, and apparently low-set protruding ears, and are similar to those of the patient whom we studied. BO, BOR, and BOU syndromes may represent different expressions of the same gene.…”

The Branchio-Oto-Renal Syndrome

“…There are several other syndromes in which abnormalities of both organs coexist and, therefore, presumably they both share one or more genetic determinants. The sharing of a common antigen by the kidney and cochlea [10], the observation of a dysplastic stria vascularis [11] in addition to renal dys plasia in an autopsied case [4] have been noted by Mel nick et al [8] as a substantiating factor suggesting a close embryonic relationship. In addition to the branchio-otorenal syndrome several other syndromes are recognized in which dysplastic kidneys are associated with ear mal formations.…”