Clin Genet. 1978 May;13(5):425-42.

Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

Melnick M, Hodes ME, Nance WE, Yune H, Sweeney A.

Abstract

Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto dysplasia (BO). The former syndrome is characterized by external ear malformations, cervical fistulae, mixed hearing loss and renal anomalies of varying severity. The latter syndrome differs in that there are no renal anomalies and that the sensorineural component of the hearing loss may be absent. The external ear malformations are quite variable in both syndromes. Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same autosomal dominant mutation but distinct disease entities. The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia-renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with "Potter facies" in the presence of auricular malformation and renal adysplasia.

PMID:: 657583; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Supplemental Content

Save items

Related citations in PubMed

Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. [Am J Med Genet. 1978]
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.
Fraser FC, Ling D, Clogg D, Nogrady B. Am J Med Genet. 1978; 2(3):241-52.
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). [Am J Med Genet. 1998]
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
Stratakis CA, Lin JP, Rennert OM. Am J Med Genet. 1998 Sep 23; 79(3):209-14.
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. [Am J Med Genet. 1998]
Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.
Kumar S, Marres HA, Cremers CW, Kimberling WJ. Am J Med Genet. 1998 Apr 13; 76(5):395-401.
Review From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. [J Pediatr Surg. 2009]
Review From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature.
Senel E, Kocak H, Akbiyik F, Saylam G, Gulleroglu BN, Senel S. J Pediatr Surg. 2009 Mar; 44(3):623-5.
Review Branchio-oto-renal syndrome. [J Nephrol. 2003]
Review Branchio-oto-renal syndrome.
Rodríguez Soriano J. J Nephrol. 2003 Jul-Aug; 16(4):603-5.

See reviews... See all...

Cited by 3 PubMed Central articles

Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. [Am J Hum Genet. 2000]
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
Kumar S, Deffenbacher K, Marres HA, Cremers CW, Kimberling WJ. Am J Hum Genet. 2000 May; 66(5):1715-20. Epub 2000 Apr 3.
Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. [Am J Hum Genet. 1994]
Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.
Kumar S, Kimberling WJ, Connolly CJ, Tinley S, Marres HA, Cremers CW. Am J Hum Genet. 1994 Dec; 55(6):1188-94.
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy. [J Med Genet. 1987]
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.
Jongbloet PH. J Med Genet. 1987 Oct; 24(10):616-20.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal ...
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
Clin Genet. 1978 May ;13(5):425-42.

PubMed
The coordination of treatment services for problem drinkers: problems and prospe...
The coordination of treatment services for problem drinkers: problems and prospects.
Br J Addict. 1983 Jun ;78(2):131-8.

PubMed
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adu...
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia.
Clin Genet. 1978 Apr ;13(4):369-79.

PubMed
The role of occupational lead exposure in the genesis of psychiatric and behavio...
The role of occupational lead exposure in the genesis of psychiatric and behavioral disturbances.
Acta Psychiatr Scand Suppl. 1983 ;303:38-48.

PubMed
The estimation of D-isocitric acid in urine using isocitrate dehydrogenase.
The estimation of D-isocitric acid in urine using isocitrate dehydrogenase.
Clin Chim Acta. 1978 Jun ;86(2):223-5.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.

Abstract

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Other Literature Sources

Supplemental Content

Save items

Related citations in PubMed

Cited by 3 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information