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Quoted phrase not found in phrase index: "Lymphedema-posterior choanal atresia syndrome"
Page 1
CHARGE syndrome.
Blake KD, Prasad C. Blake KD, et al. Orphanet J Rare Dis. 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. Orphanet J Rare Dis. 2006. PMID: 16959034 Free PMC article. Review.
In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor c …
In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial ner …
Pediatric unilateral isolated choanal atresia is not associated with mandibular condyle hypoplasia.
Oh MS, Kadom N, Abramowicz S, Todd NW Jr. Oh MS, et al. Am J Otolaryngol. 2021 Jan-Feb;42(1):102824. doi: 10.1016/j.amjoto.2020.102824. Epub 2020 Nov 12. Am J Otolaryngol. 2021. PMID: 33221635
We included 20 patients (2 males and 18 females, ages 2 weeks to 13 years) with unilateral isolated non-syndromic choanal atresia. We studied their high-resolution computed tomographic scans. ...CONCLUSIONS: In this cohort of children with the rarity of isola …
We included 20 patients (2 males and 18 females, ages 2 weeks to 13 years) with unilateral isolated non-syndromic choanal a …
Midface anomalies in children.
Lowe LH, Booth TN, Joglar JM, Rollins NK. Lowe LH, et al. Radiographics. 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. Radiographics. 2000. PMID: 10903683 Review.
These categories comprise anomalies that are related to the nasal cavity, nasofrontal region, nasolacrimal apparatus, and craniofacial syndromes. CT is the imaging modality of choice in children with possible choanal atresia, pyriform aperture stenosis, or an …
These categories comprise anomalies that are related to the nasal cavity, nasofrontal region, nasolacrimal apparatus, and craniofacial sy …
Clival Malformations in CHARGE Syndrome.
Mahdi ES, Whitehead MT. Mahdi ES, et al. AJNR Am J Neuroradiol. 2018 Jun;39(6):1153-1156. doi: 10.3174/ajnr.A5612. Epub 2018 Apr 5. AJNR Am J Neuroradiol. 2018. PMID: 29622552 Free PMC article.
BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. ...Recently, a coronal clival cleft has been identified …
BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations …
Spectrum of Human Foxe1/TTF2 Mutations.
Castanet M, Polak M. Castanet M, et al. Horm Res Paediatr. 2010;73(6):423-9. doi: 10.1159/000281438. Epub 2010 May 6. Horm Res Paediatr. 2010. PMID: 20453517 Free article. Review.
In humans, three homozygous loss-of-function missense mutations located within the forkhead domain have been reported in 5 patients with Bamforth syndrome. This syndrome is a rare inherited condition whose main features are congenital hypothyroidism (CH) due to TD ( …
In humans, three homozygous loss-of-function missense mutations located within the forkhead domain have been reported in 5 patients with Bam …
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.
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 exper …
OBJECTIVE: To provide recommendations to otolaryngologists and allied physicians for the comprehensive management of young infants who prese …
The CHARGE association: choanal atresia and multiple congenital anomalies.
Kaplan LC. Kaplan LC. Otolaryngol Clin North Am. 1989 Jun;22(3):661-72. Otolaryngol Clin North Am. 1989. PMID: 2498809 Review.
This article has attempted to describe an approach to the assessment and management of the child with choanal atresia whose airway abnormality is one component of a multiple anomaly condition (CHARGE association). The risks to the child with CHARGE association excee …
This article has attempted to describe an approach to the assessment and management of the child with choanal atresia whose ai …
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA. Beauchamp MC, et al. Dev Dyn. 2020 Aug;249(8):924-945. doi: 10.1002/dvdy.183. Epub 2020 May 21. Dev Dyn. 2020. PMID: 32315467 Free article. Review.
Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia, malar hypoplasia, external ear anomalies, eye anomalies, psychomotor delay, intellectual disabili …
Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. Pa …
Endoscopic Endonasal Repair of Congenital Choanal Atresia: Predictive Factors of Surgical Stability and Healing Outcomes.
Ferlito S, Maniaci A, Dragonetti AG, Cocuzza S, Lechien JR, Calvo-Henríquez C, Maza-Solano J, Locatello LG, Caruso S, Nocera F, Achena A, Mevio N, Mantini G, Ormellese G, Placentino A, La Mantia I. Ferlito S, et al. Int J Environ Res Public Health. 2022 Jul 26;19(15):9084. doi: 10.3390/ijerph19159084. Int J Environ Res Public Health. 2022. PMID: 35897454 Free PMC article.
Background: To assess the long-term outcomes and independent predictors of surgical success of a one-stage minimally invasive surgical procedure for congenital choanal atresia (C.C.A.). Methods: a retrospective multicentric study was conducted between 2010 and 2022. …
Background: To assess the long-term outcomes and independent predictors of surgical success of a one-stage minimally invasive surgical proce …
119 results