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The following term was not found in PubMed: lymphedema-posterior
Page 1
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R. Marszałek-Kruk BA, et al. Genes (Basel). 2021 Sep 9;12(9):1392. doi: 10.3390/genes12091392. Genes (Basel). 2021. PMID: 34573374 Free PMC article. Review.
Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs …
Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of low …
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Hefner MA, Fassi E. Hefner MA, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):407-416. doi: 10.1002/ajmg.c.31589. Epub 2017 Oct 31. Am J Med Genet C Semin Med Genet. 2017. PMID: 29088501 Review.
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). ...CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular …
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, sme …
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care.
Moreddu E, Rizzi M, Adil E, Balakrishnan K, Chan K, Cheng A, Daniel SJ, de Alarcon A, Hart C, Hartnick C, Inglis A, Leboulanger N, Pransky S, Rahbar R, Russell J, Rutter M, Sidell D, Smith RJH, Soma M, Spratley J, Thompson D, Trozzi M, Ward R, Wyatt M, Yeung J, Zalzal G, Zur K, Nicollas R. Moreddu E, et al. Int J Pediatr Otorhinolaryngol. 2019 Aug;123:151-155. doi: 10.1016/j.ijporl.2019.05.010. Epub 2019 May 13. Int J Pediatr Otorhinolaryngol. 2019. PMID: 31103745 Review.
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 …
RESULTS: Twenty-eight members completed the survey, in 22 tertiary-care center departments representing 8 countries. The main consens …
CHARGE syndrome: diagnosis and clinical management in the NICU.
Allen T. Allen T. Adv Neonatal Care. 2012 Dec;12(6):336-42; quiz 343-4. doi: 10.1097/ANC.0b013e318276c320. Adv Neonatal Care. 2012. PMID: 23187639
CHARGE syndrome is a condition that has historically been diagnosed on the basis of the clinical findings of coloboma, heart disease, choanal atresia, restricted growth, and/or central nervous system anomalies, genital hypoplasia, and ear anomalies and/or dea …
CHARGE syndrome is a condition that has historically been diagnosed on the basis of the clinical findings of coloboma, heart disease, …
Nasal Cavity CT Imaging Contribution to the Diagnosis and Treatment of Choanal Atresia.
Šebová I, Vyrvová I, Barkociová J. Šebová I, et al. Medicina (Kaunas). 2021 Jan 21;57(2):93. doi: 10.3390/medicina57020093. Medicina (Kaunas). 2021. PMID: 33494264 Free PMC article.
Background and Objectives: Choanal atresia is the most common congenital malformation of the nose. ...The same applies to the width in soft choanal atresia. On the other hand, the width of the developed choana in the case of unilateral atresia i …
Background and Objectives: Choanal atresia is the most common congenital malformation of the nose. ...The same applies to the …
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE. Mariath LM, et al. Clin Genet. 2021 Jan;99(1):29-41. doi: 10.1111/cge.13792. Epub 2020 Jun 29. Clin Genet. 2021. PMID: 32506467 Review.
In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CAS was also described in patients with keratins 5/14 alterations, particularly involving severe phenotypes. ...
In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CA …
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
Slavotinek AM, Tifft CJ. Slavotinek AM, et al. J Med Genet. 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623. J Med Genet. 2002. PMID: 12205104 Free PMC article. Review.
Use of the published diagnostic criteria excluded several patients with cryptophthalmos and one or more physical feature(s) consistent with Fraser syndrome. The frequency of additional anomalies in our series was also higher than previously reported (for example, imperfora …
Use of the published diagnostic criteria excluded several patients with cryptophthalmos and one or more physical feature(s) consistent with …
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N. Busa T, et al. Prenat Diagn. 2016 Jun;36(6):561-7. doi: 10.1002/pd.4825. Epub 2016 May 12. Prenat Diagn. 2016. PMID: 27061523
BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. ...Intrauterine growth restriction, previously proposed as an exclusion criterion, complicated two pregnancies and is thus compatible with the diagnosis. CONCLUSION: D …
BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. ...Intrauterine growth rest …
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Legendre M, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27. Am J Med Genet C Semin Med Genet. 2017. PMID: 29178447
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. .. …
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retar …
Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options.
Bernstein V, Denno LS. Bernstein V, et al. Am J Med Genet A. 2005 Mar 15;133A(3):232-9. doi: 10.1002/ajmg.a.30542. Am J Med Genet A. 2005. PMID: 15688425
Twenty-nine students with CHARGE syndrome were evaluated using the Compulsive Behavior Checklist (CBC). ...Each category has different treatment options. A case study of an adolescent girl with CHARGE syndrome who has profound deafness, colobomas, and moderate cogni …
Twenty-nine students with CHARGE syndrome were evaluated using the Compulsive Behavior Checklist (CBC). ...Each category has differen …
19 results