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Gabriele Gillessenkaesbach - One of the best experts on this subject based on the ideXlab platform.
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microcephaly microtia preauricular tags Choanal Atresia and developmental delay in three unrelated patients a mandibulofacial dysostosis distinct from treacher collins syndrome
American Journal of Medical Genetics Part A, 2009Co-Authors: Dagmar Wieczorek, Blanca Gener, Ma Jesus Martinez Gonzalez, Saskia Seland, Sven Fischer, Ute Hehr, Alma Kuechler, Lies H Hoefsloot, Nicole De Leeuw, Gabriele GillessenkaesbachAbstract:Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, Choanal Atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.
Dagmar Wieczorek - One of the best experts on this subject based on the ideXlab platform.
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microcephaly microtia preauricular tags Choanal Atresia and developmental delay in three unrelated patients a mandibulofacial dysostosis distinct from treacher collins syndrome
American Journal of Medical Genetics Part A, 2009Co-Authors: Dagmar Wieczorek, Blanca Gener, Ma Jesus Martinez Gonzalez, Saskia Seland, Sven Fischer, Ute Hehr, Alma Kuechler, Lies H Hoefsloot, Nicole De Leeuw, Gabriele GillessenkaesbachAbstract:Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, Choanal Atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.
Graeme A B Perks - One of the best experts on this subject based on the ideXlab platform.
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solitary median maxillary central incisor short stature Choanal Atresia midnasal stenosis smmci syndrome
Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology, 1997Co-Authors: Roger K Hall, Agnes Bankier, Michael J Aldred, Karen Kan, James O Lucas, Graeme A B PerksAbstract:Abstract This article describes a series of 21 consecutive cases, each involving a solitary median maxillary central incisor; the patients were seen in the Department of Dentistry or the Victorian Clinical Genetics Unit, Murdoch Institute, at the Royal Children's Hospital, Melbourne, from 1966 to 1997. The spectrum of anomalies and associated features present in these cases—solitary median maxillary central incisor, Choanal Atresia, and holoprosencephaly—is described, and the literature related to the features, including genetic studies in these conditions, is reviewed. We relate our findings in these cases to current knowledge of developmental embryology. It is hoped that the findings, together with our interpretation of them, will help to clarify understanding of solitary median maxillary central incisor syndrome. This syndrome was previously considered a simple midline defect of the dental lamina, but it is now recognized as a possible predictor of holoprosencephalies of varying degrees in the proband, in members of the proband's family, and in the family's descendants.
Nicole De Leeuw - One of the best experts on this subject based on the ideXlab platform.
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microcephaly microtia preauricular tags Choanal Atresia and developmental delay in three unrelated patients a mandibulofacial dysostosis distinct from treacher collins syndrome
American Journal of Medical Genetics Part A, 2009Co-Authors: Dagmar Wieczorek, Blanca Gener, Ma Jesus Martinez Gonzalez, Saskia Seland, Sven Fischer, Ute Hehr, Alma Kuechler, Lies H Hoefsloot, Nicole De Leeuw, Gabriele GillessenkaesbachAbstract:Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, Choanal Atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.
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Microcephaly, microtia, preauricular tags, Choanal Atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
'Wiley', 2009Co-Authors: Wieczorek D., Nicole De Leeuw, Gener B., Gonzalez M.j., Seland S., Fischer S., Hehr U., Kuechler A., Hoefsloot L.h., Gillessen-kaesbach G.Abstract:Contains fulltext : 79589.pdf (publisher's version ) (Closed access)Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, Choanal Atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis
Eelam Adil - One of the best experts on this subject based on the ideXlab platform.
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international pediatric otolaryngology group ipog consensus recommendations diagnosis pre operative operative and post operative pediatric Choanal Atresia care
International Journal of Pediatric Otorhinolaryngology, 2019Co-Authors: E Moreddu, Mark D Rizzi, Eelam Adil, Karthik Balakrishnan, Kenny H Chan, Alan Cheng, Sam J Daniel, Alessandro De Alarcon, Catherine K Hart, Christopher J HartnickAbstract:Abstract Objective To provide recommendations to otolaryngologists and allied physicians for the comprehensive management of young infants who present with signs or symptoms of Choanal Atresia. Methods A two-iterative delphi method questionnaire was used to establish expert recommendations by the members of the International Otolaryngology Group (IPOG), on the diagnostic, intra-operative, post-operative and revision surgery considerations. Results Twenty-eight members completed the survey, in 22 tertiary-care center departments representing 8 countries. The main consensual recommendations were: nasal endoscopy or fiberscopy and CT imaging are recommended for diagnosis; unilateral Choanal Atresia repair should be delayed after at least age 6 months whenever possible; transnasal endoscopic repair is the preferred technique; long term follow-up is recommended (minimum one year) using nasal nasofiberscopy or rigid endoscopy, without systematic imaging. Conclusion Choanal Atresia care consensus recommendations are aimed at improving patient-centered care in neonates, infants and children with Choanal Atresia.
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to stent or not to stent a meta analysis of endonasal congenital bilateral Choanal Atresia repair
Laryngoscope, 2016Co-Authors: Julie E Strychowsky, Eelam Adil, Kosuke Kawai, Ethan Moritz, Reza RahbarAbstract:Objectives: The use of nasal stents as a postoperative adjunct following repair of Choanal Atresia remains controversial.The study objective was to systematically review the literature regarding the efficacy and safety of stenting following trans-nasal endoscopic repair of bilateral Choanal Atresia.Study Design: Systematic review with meta-analysis.Methods: A comprehensive search in PubMed, EMBASE, CINAHL, and the Cochrane Library was conducted. Inclusioncriteria included articles written in the English language with five or more subjects and clear intervention data and outcomes.Two independent reviewers screened studies for eligibility, appraised the level of evidence, extracted data, and resolved dis-crepancies by consensus. Successful surgery was defined as the absence of restenosis.Results: Of 154 identified studies, 15 met inclusion criteria. Levels of evidence varied from level 3 to 4. Mean age atsurgery ranged from 5 days to 25 months. Thirteen studies (n5167 patients) included patients who were stented; theweighted pooled proportion of successful surgery was 65% (95% confidence interval [CI], 49–76%). Mean duration of stent-ing ranged from 48 hours to 16 weeks. Six studies (n542) evaluated patients who were not stented; the weighted pooledproportion of successful surgery was 64% (95% CI, 42–84%). Complications associated with stenting included alar injury,vestibular stenosis, columellar tear, and stent dislodgement or blockage.Conclusions: Success rates for bilateral Choanal Atresia repair were similar with and without the use of nasal stents.The use of nasal stents may be associated with more complications. There is insufficient data to determine if mitomycin C isa useful therapeutic adjunct.Key Words: Choanal Atresia, stent, mitomycin, CHARGE, restenosis.Level of Evidence: NALaryngoscope, 00:000–000, 2015