Branchio-OTO-Renal Dysplasia in Three Families

1986 ◽  
Vol 95 (4) ◽  
pp. 421-426 ◽  
Author(s):  
Steen Gimsing ◽  
Jørgen Dyrmose
Keyword(s):  
Hearing Loss ◽  
Mixed Type ◽  
Autosomal Dominant ◽  
Early Recognition ◽  
Renal Dysplasia ◽  
Dominant Mode ◽  
Clinical Aspects ◽  
Full Expression ◽  
Renal Malformations

Branchio-oto-renal dysplasia, often called the BOR syndrome, in its full expression consists of 1) hearing loss of conductive, sensorineural, or mixed type; 2) preauricular pits; 3) auricular deformities; 4) lateral cervical sinuses, cysts, or fistulas; and 5) renal malformations. The condition is inherited in an autosomal dominant mode. The findings in three affected families are described, and pertinent genetic and clinical aspects are discussed. The potential seriousness of the renal and aural malformations stresses the importance of early recognition of this syndrome.

scholarly journals A Father and Son with a Nonsevere form of Crouzon's Syndrome

2000 ◽  
Vol 79 (5) ◽  
pp. 368-371
Author(s):  
Bülent Mamikoglu ◽  
Aysegül Mamikoglu
Keyword(s):  
Hearing Loss ◽  
Middle Ear ◽  
Mixed Type ◽  
Autosomal Dominant ◽  
Cranial Sutures ◽  
Autosomal Dominant Disorder ◽  
Classic Form ◽  
Patients Experience ◽  
Father And Son ◽  
Crouzon's Syndrome

Crouzon's syndrome is a hereditary autosomal-dominant disorder. In its classic form, patients experience a premature closure of the cranial sutures, which leads to brachycephaly, proptosis, a small maxilla, and anomalies of the external and middle ear. In this report, we describe the case of a father and son who both had a nonsevere form of this disorder. The two men did not have brachycephaly or proptosis, but they did have ptosis and a mixed-type hearing loss.

The Lacrimo-Auriculo-Dento-Digital Syndrome

PEDIATRICS ◽  
1977 ◽  
Vol 59 (6) ◽  
pp. 927-930
Author(s):  
Elaine Li Shiang ◽  
Lewis B. Holmes
Keyword(s):  
Hearing Loss ◽  
Salivary Glands ◽  
Autosomal Dominant ◽  
Severe Hypertension ◽  
Early Recognition ◽  
Renal Anomalies ◽  
Malformation Syndrome ◽  
Affected Infant ◽  
Kidney Malformations ◽  
Nasolacrimal Ducts

A mother and son had an autosomal-dominant malformation syndrome that included absence of the lacrimal puncta, obstruction of the nasolacrimal ducts, hearing loss, poor dentition, and abnormal thumbs. The son also had severe hypertension with renal anomalies and absence of several salivary glands. Affected members of the only other reported family also had cup-shaped ears and synostosis of the radius and ulna. Early recognition of this disorder is important because of the possibility that the affected infant may have hearing loss and kidney malformations.

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene

1995 ◽  
Vol 96 (1) ◽  
pp. 1-5 ◽  
Author(s):  
E. K. Bijlsma ◽  
P. Merel ◽  
P. Fleury ◽  
C. J. van Asperen ◽  
A. Westerveld ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene

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.

The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein [alpha] 11 mutations causing autosomal dominant hypocalcaemia type 2

2014 ◽  
Author(s):  
Valerie Babinsky ◽  
Fadil Hannan ◽  
M Andrew Nesbit ◽  
Sarah Howles ◽  
Jianxin Hu ◽  
...  
Keyword(s):  
G Protein ◽  
Autosomal Dominant ◽  
Gain Of Function

scholarly journals A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nozomu Matsuda ◽  
Koushi Ootsuki ◽  
Shunsuke Kobayashi ◽  
Ayaka Nemoto ◽  
Hitoshi Kubo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Neuromuscular Disorders ◽  
Whole Body ◽  
Congenital Hearing Loss ◽  
Severe Phenotype ◽  
Demyelinating Neuropathy ◽  
Magnetic Resonance Neurography ◽  
Peripheral Myelin Protein 22 ◽  
Hypertrophic Neuropathy

Abstract Background Hereditary motor and sensory neuropathy, also referred to as Charcot–Marie–Tooth disease (CMT), is most often caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. This duplication causes CMT type 1A (CMT1A). CMT1A rarely occurs in combination with other hereditary neuromuscular disorders. However, such rare genetic coincidences produce a severe phenotype and have been reported in terms of “double trouble” overlapping syndrome. Waardenburg syndrome (WS) is the most common form of a hereditary syndromic deafness. It is primarily characterized by pigmentation anomalies and classified into four major phenotypes. A mutation in the SRY sex determining region Y-box 10 (SOX10) gene causes WS type 2 or 4 and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease. We describe a 11-year-old boy with extreme hypertrophic neuropathy because of a combination of CMT1A and WS type 2. This is the first published case on the co-occurrence of CMT1A and WS type 2. Case presentation The 11-year-old boy presented with motor developmental delay and a deterioration in unstable walking at 6 years of age. In addition, he had congenital hearing loss and heterochromia iridis. The neurological examination revealed weakness in the distal limbs with pes cavus. He was diagnosed with CMT1A by the fluorescence in situ hybridization method. His paternal pedigree had a history of CMT1A. However, no family member had congenital hearing loss. His clinical manifestation was apparently severe than those of his relatives with CMT1A. In addition, a whole-body magnetic resonance neurography revealed an extreme enlargement of his systemic cranial and spinal nerves. Subsequently, a genetic analysis revealed a heterozygous frameshift mutation c.876delT (p.F292Lfs*19) in the SOX10 gene. He was eventually diagnosed with WS type 2. Conclusions We described a patient with a genetically confirmed overlapping diagnoses of CMT1A and WS type 2. The double trouble with the genes created a significant impact on the peripheral nerves system. Severe phenotype in the proband can be attributed to the cumulative effect of mutations in both PMP22 and SOX10 genes, responsible for demyelinating neuropathy.

scholarly journals Discovery of predictors of sudden cardiac arrest in diabetes: rationale and outline of the RESCUED (REcognition of Sudden Cardiac arrest vUlnErability in Diabetes) project

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001554
Author(s):  
Laura H van Dongen ◽  
Peter P Harms ◽  
Mark Hoogendoorn ◽  
Dominic S Zimmerman ◽  
Elisabeth M Lodder ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Prognostic Model ◽  
Early Recognition ◽  
Sudden Cardiac Arrest ◽  
Clinical Genetic ◽  
Innovative Strategy ◽  
Rare Variant Analysis ◽  
Increased Risk ◽  
Gp Care

IntroductionEarly recognition of individuals with increased risk of sudden cardiac arrest (SCA) remains challenging. SCA research so far has used data from cardiologist care, but missed most SCA victims, since they were only in general practitioner (GP) care prior to SCA. Studying individuals with type 2 diabetes (T2D) in GP care may help solve this problem, as they have increased risk for SCA, and rich clinical datasets, since they regularly visit their GP for check-up measurements. This information can be further enriched with extensive genetic and metabolic information.AimTo describe the study protocol of the REcognition of Sudden Cardiac arrest vUlnErability in Diabetes (RESCUED) project, which aims at identifying clinical, genetic and metabolic factors contributing to SCA risk in individuals with T2D, and to develop a prognostic model for the risk of SCA.MethodsThe RESCUED project combines data from dedicated SCA and T2D cohorts, and GP data, from the same region in the Netherlands. Clinical data, genetic data (common and rare variant analysis) and metabolic data (metabolomics) will be analysed (using classical analysis techniques and machine learning methods) and combined into a prognostic model for risk of SCA.ConclusionThe RESCUED project is designed to increase our ability at early recognition of elevated SCA risk through an innovative strategy of focusing on GP data and a multidimensional methodology including clinical, genetic and metabolic analyses.

Sign in / Sign up

Export Citation Format

Share Document