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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 …
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.
Kita M, Kuwata Y, Usui T. Kita M, et al. Auris Nasus Larynx. 2019 Oct;46(5):808-812. doi: 10.1016/j.anl.2018.10.005. Epub 2018 Nov 2. Auris Nasus Larynx. 2019. PMID: 30396722
We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. ...Each family member, including her grandfather, mother, and two siblings, had HDR syndrome of …
We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnos …
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W. Chen X, et al. BMC Med Genet. 2019 May 30;20(1):93. doi: 10.1186/s12881-019-0813-z. BMC Med Genet. 2019. PMID: 31146700 Free PMC article.
BACKGROUND: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. ...RESULTS: A total of 12 unrelated patients in our cohort were found with CHD7 variants. Eight pat …
BACKGROUND: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitouri …
Stenting versus stentless repair for bilateral choanal atresia: A systematic review of the literature.
Gundle L, Ojha S, Hendry J, Rosen H. Gundle L, et al. Int J Pediatr Otorhinolaryngol. 2021 Dec;151:110926. doi: 10.1016/j.ijporl.2021.110926. Epub 2021 Oct 1. Int J Pediatr Otorhinolaryngol. 2021. PMID: 34624631
BACKGROUND: Bilateral choanal atresia requires prompt surgical intervention. Surgeons have historically used stents in the repair process, however their efficacy has come into question in recent years. ...CONCLUSION: Overall, there is a lack of high quality evidence …
BACKGROUND: Bilateral choanal atresia requires prompt surgical intervention. Surgeons have historically used stents in the rep …
Choanal atresia and its associated anomalies. Further support for the CHARGE Association.
Kaplan LC. Kaplan LC. Int J Pediatr Otorhinolaryngol. 1985 Mar;8(3):237-42. doi: 10.1016/s0165-5876(85)80084-7. Int J Pediatr Otorhinolaryngol. 1985. PMID: 3997378
In a chart review of 41 patients with the diagnosis of choanal atresia, 17 patients (41%) had choanal atresia alone while 24 (59%) had at least one other anomaly. Twenty-four (59%) of all patients had bilateral choanal atresia, and 75% of …
In a chart review of 41 patients with the diagnosis of choanal atresia, 17 patients (41%) had choanal atresia al …
Care of Children with DiGeorge Before and After Cultured Thymus Tissue Implantation.
Gupton SE, McCarthy EA, Markert ML. Gupton SE, et al. J Clin Immunol. 2021 Jul;41(5):896-905. doi: 10.1007/s10875-021-01044-0. Epub 2021 May 18. J Clin Immunol. 2021. PMID: 34003433 Free PMC article.
BACKGROUND: Children with complete DiGeorge anomaly (cDGA) have congenital athymia plus a myriad of other challenging clinical conditions. The term cDGA encompasses children with congenital athymia secondary to 22q11.2DS, CHARGE syndrome (coloboma, heart defects, …
BACKGROUND: Children with complete DiGeorge anomaly (cDGA) have congenital athymia plus a myriad of other challenging clinical condit …
Short-Term Risk Factor Profile of Pediatric Choanal Atresia Repair Using ACS-NSQIP National Database.
Marston AP, Patel T, Nguyen SA, White DR. Marston AP, et al. Ann Otol Rhinol Laryngol. 2019 Sep;128(9):855-861. doi: 10.1177/0003489419848457. Epub 2019 May 8. Ann Otol Rhinol Laryngol. 2019. PMID: 31067984
OBJECTIVES: The goal of this study is to describe the 30-day postoperative sequelae of pediatric choanal atresia repair and identify predictive factors for adverse events. ...RESULTS: A total of 178 children underwent choanal atresia repair. The overal …
OBJECTIVES: The goal of this study is to describe the 30-day postoperative sequelae of pediatric choanal atresia repair and id …
Ophthalmic Abnormalities among Children Treated with Cochlear Implants.
Ayhan Z, Mungan Durankaya S, Arıkan G, Kırkım G, Çakır Çetin A, Olgun Y, Günenç Ü, Güneri EA. Ayhan Z, et al. J Int Adv Otol. 2020 Dec;16(3):309-312. doi: 10.5152/iao.2020.6888. J Int Adv Otol. 2020. PMID: 33136008 Free PMC article.
Optic disc coloboma (3 patients), choroidal coloboma (1 patient), and pigmentary abnormality (1 patient) were noticed on fundus examination. Congenital rubella syndrome (2 patients), Waardenburg's syndrome (1 patient), and CHARGE syndrome (coloboma, heart def …
Optic disc coloboma (3 patients), choroidal coloboma (1 patient), and pigmentary abnormality (1 patient) were noticed on fundus examination. …
Use of Steroid-Eluting Stents after Endoscopic Repair of Choanal Atresia: A Case Series with Review.
Wilcox LJ, Smith MM, de Alarcon A, Epperson M, Born H, Hart CK. Wilcox LJ, et al. Ann Otol Rhinol Laryngol. 2020 Oct;129(10):1003-1010. doi: 10.1177/0003489420928374. Epub 2020 May 29. Ann Otol Rhinol Laryngol. 2020. PMID: 32468891
OBJECTIVE(S): To describe a single institution's experience with the use of steroid-eluting stents after endoscopic transnasal repair of choanal atresia. METHODS: A case series with review of children who underwent choanal atresia repair at a tertiary …
OBJECTIVE(S): To describe a single institution's experience with the use of steroid-eluting stents after endoscopic transnasal repair of …
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.
Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A. Cayir A, et al. Genet Couns. 2013;24(3):307-12. Genet Couns. 2013. PMID: 24341146 Review.
We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ea …
We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal …
43 results