The Experts below are selected from a list of 10740 Experts worldwide ranked by ideXlab platform
Han G Brunner - One of the best experts on this subject based on the ideXlab platform.
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chd7 mutations in patients initially diagnosed with kallmann Syndrome the clinical overlap with CHARGE Syndrome
Clinical Genetics, 2009Co-Authors: Marjolijn C J Jongmans, Stephanie B Seminara, Conny M A Van Ravenswaaijarts, H Claahsenvan Der L Grinten, K Van Der Donk, Jorieke E H Bergman, Nelly Pitteloud, Tsutomu Ogata, N Sato, Han G BrunnerAbstract:Kallmann Syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE Syndrome. CHARGE Syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. Three of 56 KS/nIHH patients had de novo mutations in CHD7. In retrospect, these three CHD7-positive patients showed additional features that are seen in CHARGE Syndrome. CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE Syndrome phenotype. We did not find mutations in patients with isolated KS. These findings imply that patients diagnosed with hypogonadotropic hypogonadism and anosmia should be screened for clinical features consistent with CHARGE Syndrome. If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended.
Mauricio Castillo - One of the best experts on this subject based on the ideXlab platform.
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Pediatric Sensorineural Hearing Loss, Part 2: Syndromic and Acquired Causes
2020Co-Authors: Benjamin Y Huang, Carlton J Zdanski, Mauricio CastilloAbstract:SUMMARY: This article is the second in a 2-part series reviewing neuroimaging in childhood SNHL. Previously, we discussed the clinical work-up of children with hearing impairment, the classification of inner ear malformations, and congenital nonsyndromic causes of hearing loss. Here, we review and illustrate the most common syndromic hereditary and acquired causes of childhood SNHL, with an emphasis on entities that demonstrate inner ear abnormalities on cross-sectional imaging. Syndromes discussed include BOR Syndrome, CHARGE Syndrome, Pendred Syndrome, Waardenburg Syndrome, and X-linked hearing loss with stapes gusher. We conclude the article with a review of acquired causes of childhood SNHL, including infections, trauma, and neoplasms. ABBREVIATIONS: BOR ϭ branchio-oto-renal; CISS ϭ constructive interference in steady state; IAC ϭ internal auditory canal; NF-2 ϭ neurofibromatosis type II; SCC ϭ semicircular canal; SNHL ϭ sensorineural hearing loss; T1WI ϭ T1-weighted image; T2WI ϭ T2-weighted image T he estimated prevalence of SNHL in patients younger than 18 years of age is 6 per 1000, 1 making it one of the leading causes of childhood disability and a common reason for otolaryngology referrals. Cross-sectional imaging is now routinely performed in these patients because it provides important information about potential etiologies for hearing loss, defines the anatomy of the temporal bone and the central auditory pathway, and identifies additional intracranial abnormalities that may require further work-up. In the first part of our series, we reviewed some of the practical aspects related to imaging children with SNHL, including epidemiology, clinical work-up, and choices of imaging technique; we also discussed the classification of congenital inner ear malformations and congenital nonsyndromic causes of SNHL. In this article, we continue our discussion of neuroimaging for childhood SNHL, focusing on several of the most common syndromic hereditary forms of SNHL as well as acquired causes of hearing loss
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pediatric sensorineural hearing loss part 2 syndromic and acquired causes
American Journal of Neuroradiology, 2012Co-Authors: Benjamin Y Huang, Carlton J Zdanski, Mauricio CastilloAbstract:This article is the second in a 2-part series reviewing neuroimaging in childhood SNHL. Previously, we discussed the clinical work-up of children with hearing impairment, the classification of inner ear malformations, and congenital nonsyndromic causes of hearing loss. Here, we review and illustrate the most common syndromic hereditary and acquired causes of childhood SNHL, with an emphasis on entities that demonstrate inner ear abnormalities on cross-sectional imaging. Syndromes discussed include BOR Syndrome, CHARGE Syndrome, Pendred Syndrome, Waardenburg Syndrome, and X-linked hearing loss with stapes gusher. We conclude the article with a review of acquired causes of childhood SNHL, including infections, trauma, and neoplasms.
Marjolijn C J Jongmans - One of the best experts on this subject based on the ideXlab platform.
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chd7 mutations in patients initially diagnosed with kallmann Syndrome the clinical overlap with CHARGE Syndrome
Clinical Genetics, 2009Co-Authors: Marjolijn C J Jongmans, Stephanie B Seminara, Conny M A Van Ravenswaaijarts, H Claahsenvan Der L Grinten, K Van Der Donk, Jorieke E H Bergman, Nelly Pitteloud, Tsutomu Ogata, N Sato, Han G BrunnerAbstract:Kallmann Syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE Syndrome. CHARGE Syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. Three of 56 KS/nIHH patients had de novo mutations in CHD7. In retrospect, these three CHD7-positive patients showed additional features that are seen in CHARGE Syndrome. CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE Syndrome phenotype. We did not find mutations in patients with isolated KS. These findings imply that patients diagnosed with hypogonadotropic hypogonadism and anosmia should be screened for clinical features consistent with CHARGE Syndrome. If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended.
Benjamin Y Huang - One of the best experts on this subject based on the ideXlab platform.
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Pediatric Sensorineural Hearing Loss, Part 2: Syndromic and Acquired Causes
2020Co-Authors: Benjamin Y Huang, Carlton J Zdanski, Mauricio CastilloAbstract:SUMMARY: This article is the second in a 2-part series reviewing neuroimaging in childhood SNHL. Previously, we discussed the clinical work-up of children with hearing impairment, the classification of inner ear malformations, and congenital nonsyndromic causes of hearing loss. Here, we review and illustrate the most common syndromic hereditary and acquired causes of childhood SNHL, with an emphasis on entities that demonstrate inner ear abnormalities on cross-sectional imaging. Syndromes discussed include BOR Syndrome, CHARGE Syndrome, Pendred Syndrome, Waardenburg Syndrome, and X-linked hearing loss with stapes gusher. We conclude the article with a review of acquired causes of childhood SNHL, including infections, trauma, and neoplasms. ABBREVIATIONS: BOR ϭ branchio-oto-renal; CISS ϭ constructive interference in steady state; IAC ϭ internal auditory canal; NF-2 ϭ neurofibromatosis type II; SCC ϭ semicircular canal; SNHL ϭ sensorineural hearing loss; T1WI ϭ T1-weighted image; T2WI ϭ T2-weighted image T he estimated prevalence of SNHL in patients younger than 18 years of age is 6 per 1000, 1 making it one of the leading causes of childhood disability and a common reason for otolaryngology referrals. Cross-sectional imaging is now routinely performed in these patients because it provides important information about potential etiologies for hearing loss, defines the anatomy of the temporal bone and the central auditory pathway, and identifies additional intracranial abnormalities that may require further work-up. In the first part of our series, we reviewed some of the practical aspects related to imaging children with SNHL, including epidemiology, clinical work-up, and choices of imaging technique; we also discussed the classification of congenital inner ear malformations and congenital nonsyndromic causes of SNHL. In this article, we continue our discussion of neuroimaging for childhood SNHL, focusing on several of the most common syndromic hereditary forms of SNHL as well as acquired causes of hearing loss
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pediatric sensorineural hearing loss part 2 syndromic and acquired causes
American Journal of Neuroradiology, 2012Co-Authors: Benjamin Y Huang, Carlton J Zdanski, Mauricio CastilloAbstract:This article is the second in a 2-part series reviewing neuroimaging in childhood SNHL. Previously, we discussed the clinical work-up of children with hearing impairment, the classification of inner ear malformations, and congenital nonsyndromic causes of hearing loss. Here, we review and illustrate the most common syndromic hereditary and acquired causes of childhood SNHL, with an emphasis on entities that demonstrate inner ear abnormalities on cross-sectional imaging. Syndromes discussed include BOR Syndrome, CHARGE Syndrome, Pendred Syndrome, Waardenburg Syndrome, and X-linked hearing loss with stapes gusher. We conclude the article with a review of acquired causes of childhood SNHL, including infections, trauma, and neoplasms.
Stephanie B Seminara - One of the best experts on this subject based on the ideXlab platform.
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chd7 mutations in patients initially diagnosed with kallmann Syndrome the clinical overlap with CHARGE Syndrome
Clinical Genetics, 2009Co-Authors: Marjolijn C J Jongmans, Stephanie B Seminara, Conny M A Van Ravenswaaijarts, H Claahsenvan Der L Grinten, K Van Der Donk, Jorieke E H Bergman, Nelly Pitteloud, Tsutomu Ogata, N Sato, Han G BrunnerAbstract:Kallmann Syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE Syndrome. CHARGE Syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. Three of 56 KS/nIHH patients had de novo mutations in CHD7. In retrospect, these three CHD7-positive patients showed additional features that are seen in CHARGE Syndrome. CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE Syndrome phenotype. We did not find mutations in patients with isolated KS. These findings imply that patients diagnosed with hypogonadotropic hypogonadism and anosmia should be screened for clinical features consistent with CHARGE Syndrome. If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended.
