The branchio-oto-renal syndrome

1988 ◽  
Vol 102 (2) ◽  
pp. 138-141 ◽  
Author(s):  
M. Raspino ◽  
V. Tarantino ◽  
L. Moni ◽  
E. Verrina ◽  
M. R. Ciardi ◽  
...  
Keyword(s):  
Renal Insufficiency ◽  
Early Life ◽  
Autosomal Dominant ◽  
Renal Dysplasia ◽  
Autosomal Dominant Disorder ◽  
Renal Anomalies ◽  
Bor Syndrome ◽  
Severe Renal Insufficiency ◽  
Ear Anomalies ◽  
Renal Abnormalities

SummaryThe major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia.We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.

scholarly journals Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

2016 ◽  
Vol 19 (2) ◽  
pp. 91-94
Author(s):  
L Spahiu ◽  
B Merovci ◽  
V Ismaili Jaha ◽  
A Batalli Këpuska ◽  
H Jashari
Keyword(s):  
Novel Mutation ◽  
Abdominal Ultrasound ◽  
External Ear ◽  
Autosomal Dominant Disorder ◽  
Daily Hemodialysis ◽  
Bor Syndrome ◽  
Severe Renal Insufficiency ◽  
Renal Malformations ◽  
Ear Anomalies ◽  
End Stage

AbstractBranchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or external ear anomalies or similar findings in other family members.

Branchio-oto-renal syndrome

2015 ◽  
Author(s):  
Udo Vester ◽  
Stefanie Weber
Keyword(s):  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Renal Involvement ◽  
Gene Mutations ◽  
Branchial Arch ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Bor Syndrome ◽  
Ear Malformations ◽  
Ear Anomalies

Branchio-oto-renal (BOR) syndrome involves branchial arch fistulas or cysts, ear malformations with hearing loss, and anomalies of the kidney. BOR syndrome is inherited in an autosomal dominant trait and is caused in most cases by mutations in the EYA1 gene. A few families with gene mutations in SIX1 or SIX5 have also been described. The variability of clinical symptoms is wide. Renal involvement is observed in the majority of cases ranging from mild anomalies (e.g. dilation or duplication of the urinary tract) to severe hypodysplasia of the kidneys which eventually lead to renal failure. Branchio-otic syndrome (BOS) is characterized by branchial arch and ear anomalies without detectable renal pathology. BOR and BOS can be seen within the same family.

scholarly journals HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Mustafa Can ◽  
Feridun Karakurt ◽  
Muhammed Kocabas ◽  
İlker Cordan ◽  
Melia Karakose ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Chronic Kidney Disease ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Autosomal Dominant ◽  
Sensorineural Deafness ◽  
Renal Dysplasia ◽  
Autosomal Dominant Disorder ◽  
Hdr Syndrome

HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three of these features, while others have different combinations of these features. We aimed to present a case with primary hypoparathyroidism, hearing loss, and nondiabetic chronic kidney disease and diagnosed as HDR syndrome while being followed up for type 1 diabetes mellitus and hypopituitarism.

Second branchial cleft fistula in a child with genetically confirmed branchio-oto-renal (BOR) syndrome

2019 ◽  
Vol 8 (1) ◽  
pp. 60-66
Author(s):  
Agnieszka Remjasz ◽  
Pedro Clarós ◽  
Andrea Clarós
Keyword(s):  
Pediatric Population ◽  
Branchial Arch ◽  
Renal Anomalies ◽  
Fraser Syndrome ◽  
Bor Syndrome ◽  
Branchial Cleft Anomalies ◽  
History Of ◽  
Branchial Cleft ◽  
Branchial Fistula ◽  
Ear Anomalies

Branchial cleft anomalies constitute 32% to 45% of all neck pathologies in the pediatric population. These disorders may be a part of a branchio-oto-renal syndrome (Melnick-Fraser syndrome), characterized by branchial arch abnormalities, preauricular pits, hearing impairment, and various types of renal anomalies. Usually, the treatment of a branchial fistula does not necessarily require extensive diagnostics. However, in patients with a congenital branchial cleft fistula associated with ear anomalies recognized during a physical examination, and history of hearing loss or similar findings in other relatives, the additional analysis should be carried out to eliminate the possibility of BOR syndrome. The aim of this study is to present a rare case of a male patient presenting complete second branchial cleft fistula, diagnosed as having BOR syndrome.

Clinical Aspects of the Branchio-oto-Renal Syndrome

1984 ◽  
Vol 92 (4) ◽  
pp. 468-475 ◽  
Author(s):  
Peter G. Smith ◽  
Timothy J. Dyches ◽  
Robert A. Loomis
Keyword(s):  
Head And Neck ◽  
Inner Ear ◽  
Autosomal Dominant ◽  
Renal Dysplasia ◽  
Genetic Evaluation ◽  
Clinical Aspects ◽  
Lacrimal Duct ◽  
Autosomal Dominant Disorder ◽  
Branchial Cleft Anomalies ◽  
Branchial Cleft

The branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and the stigmata of renal dysgenesis known as Potter facies. Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated and appears to be distinct from other autosomal dominant otobranchial syndromes. Features of the syndrome expressed in three members of a family are fully illustrated, and other reported cases are compared with these to emphasize the importance of prompt, comprehensive otologic, head and neck, uroradiologic, and genetic evaluation and management.

Levy-Hollister Syndrome

PEDIATRICS ◽  
1988 ◽  
Vol 82 (1) ◽  
pp. 96-99
Author(s):  
Joseph M. Kreutz ◽  
H. Eugene Hoyme
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Early Recognition ◽  
Nasolacrimal Duct ◽  
Autosomal Dominant Disorder ◽  
Renal Anomalies ◽  
Limb Malformations ◽  
Conductive Hearing ◽  
Radial Aplasia

The Levy-Hollister syndrome is an autosomal dominant disorder characterized by lacrimal malformations, simple cup-shaped ears, hearing loss, hypodontia and enamel dysplasia, and upper limb malformations. Renal anomalies have been noted variably. Two families with this disorder have been described previously. Recently, a third family with the Levy-Hollister syndrome was evaluated. Unusual features present in this family included bilateral nasolacrimal duct fistulas, radial aplasia, and unusual dermal ridge patterns. Early recognition of this disorder should prompt investigation for renal anomalies and/or hearing loss. It should also lead to consideration of surgical attempts to correct the lacrimal abnormalities or conductive hearing loss, thereby reducing the long-term morbidity in affected patients.

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

2020 ◽  
Vol 33 (7) ◽  
pp. 963-966
Author(s):  
Haruka Kawamura ◽  
Satoshi Watanabe ◽  
Takashi I ◽  
Izumi Asahina ◽  
Hiroyuki Moriuchi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Therapeutic Potential ◽  
Giant Cells ◽  
Efficacy And Safety ◽  
Autosomal Dominant Disorder ◽  
Osteolytic Lesions ◽  
Case Presentation ◽  
Childhood Growth ◽  
Receptor Activator ◽  
Denosumab Treatment

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

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