Branchio-Oto-Renal Syndrome ; Child ; Humans ; Male

Melnick-Fraser syndrome is a rare congenital anomaly that is characterized by preauricular fistula, branchial fistula, hearing impairment, and is often combined with renal anomaly. Preauricular fistula and branchial fistula can occur in the same individual, but their association with hearing impairment is very rare. The condition is inherited in an autosomal dominant mode. Recently, we experienced a case of Melnick-Fraser syndrome in a 32 years old male patient with familial tendency. We report this case with a review of literature.
Adult ; Branchio-Oto-Renal Syndrome* ; Fistula ; Hearing Loss ; Humans ; Male

Branchio-oto-renal (BOR) syndrome is a rare congenital anomaly that is characterized by preauricular pits, branchial fistula and hearing impairment and it is often combined with renal anomalies. BOR syndrome is inherited in an autosomal dominant mode and the mutations of two genes, EYA1 and SIX1, have been identified. We experienced a case of a 14-year-old female who complained of bilateral neck openings and hearing loss that were found at birth the girl's family had a familial tendency for these features. A skin biopsy from the cervical lesion showed the characteristic features of branchial fistula. We report here on a case of BOR syndrome and we review the relevant literature.
Adolescent ; Biopsy ; Branchio-Oto-Renal Syndrome ; Female ; Fistula ; Hearing Loss ; Humans ; Neck ; Parturition ; Skin

Branchio-oto-renal(BOR) syndrome is an autosomal dominant disorder. The pathophysiology of this syndrome is unknown. BOR syndrome has a wide range of clinical manifestations affecting the branchial, auditory and renal systerns. Associated abnormalities of the face, lacrimal duct, palate and ureters have also been described. However, the major clinical findings associated and/ or ear pits, and renal anormaly. We experienced a case of a 15-day-old rnale newborn who had visited our hospital for deformed auricle and atresia of external auditory canal found at birth. We report this case with a review of the related literatures.
Branchial Region ; Branchio-Oto-Renal Syndrome* ; Ear ; Ear Canal ; Humans ; Infant, Newborn ; Palate ; Parturition ; Ureter

Adult ; Branchio-Oto-Renal Syndrome ; diagnosis ; Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; Diagnostic Errors ; Female ; Humans ; Male

The branchio-oto-renal (BOR) syndrome is a clinically and genetically heterogeneous disease entity which is characterized by the association of preauricular pits, branchial cleft anomaly, hearing loss and various renal anomalies. The incidence of BOR syndrome is approximately 1 : 40,000 and its genetic pattern of transmission is autosomal dominant. Hearing loss is the most common feature of BOR syndrome and is reported in almost 90% of affected individuals. EYA1, the human homologue of the Drosophila eyes absent gene, has been shown to cause BOR syndrome. We report, with a review of literatures, a female patient with BOR syndrome.
Branchial Region ; Branchio-Oto-Renal Syndrome ; Drosophila ; Eye ; Female ; Hearing Loss ; Humans ; Incidence

Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
Branchial Region ; Branchio-Oto-Renal Syndrome ; Branchioma ; Fistula ; Hearing Loss ; Organogenesis

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old girl.
Branchio-Oto-Renal Syndrome ; Cleft Lip ; Craniofacial Abnormalities ; Ear ; Hearing Loss, Conductive ; Neck ; Palate ; Preschool Child ; Skin

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS). METHODS: The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members. RESULTS: The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4). CONCLUSION The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
Branchio-Oto-Renal Syndrome ; China ; Humans ; Intracellular Signaling Peptides and Proteins/genetics* ; Mutation ; Nuclear Proteins/genetics* ; Pedigree ; Protein Tyrosine Phosphatases/genetics*

Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder that is characterized by preauricular pits, branchial fistula, branchial cyst, hearing impairment, and kidney anomalies. Hearing impairment is the single most common feature of BOR syndrome, affecting 89% of patients. Preauricular pits (77%), kidney anomalies (66%), branchial fistula (63%), external auditory canal anomalies (41%) are also common. For most patients, BOR syndrome does not affect life expectancy. The major life-threatening feature of this condition is kidney dysfunction, which occurs with about 6% of kidney anomalies. Therefore, once BOR syndrome is recognized in a patient, careful evaluation to detect renal anomalies and treatment of any kidney involvement are necessary. No case reports of BOR syndrome involving adult-onset end-stage kidney disease have been published in the Korean medical literature. We report a case of end-stage kidney disease in a 19-year-old male patient with BOR syndrome, together with a review of the pertinent literature.
Branchio-Oto-Renal Syndrome* ; Branchioma ; Ear Canal ; Fistula ; Hearing Loss ; Humans ; Kidney ; Kidney Failure, Chronic ; Life Expectancy ; Male ; Renal Insufficiency* ; Young Adult