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Quoted phrase not found in phrase index: "Lymphedema-posterior choanal atresia syndrome"
Page 1
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 …
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.). ...No statistical significance was found for average hospital stay betwee …
Background: To assess the long-term outcomes and independent predictors of surgical success of a one-stage minimally invasive surgica …
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. Bergman JE, et al. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378379 Review.
BACKGROUND: CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome, of which the complete phenotypic spectrum was only revealed after identification of the causative gene in 2004. CHARGE is an acronym for ocular coloboma, congenital heart defects …
BACKGROUND: CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome, of which the complete phenotypic spect …
Management of the Airway in Apert Syndrome.
Xie C, De S, Selby A. Xie C, et al. J Craniofac Surg. 2016 Jan;27(1):137-41. doi: 10.1097/SCS.0000000000002333. J Craniofac Surg. 2016. PMID: 26674912
Obstructive apneas arise because of decreased airway caliber, which may occur in the form of congenital bony nasal stenosis, choanal atresia, a deviated nasal septum, a narrowed nasopharynx, a thick long soft palate, lateral palatal swellings, and a tracheal cartila …
Obstructive apneas arise because of decreased airway caliber, which may occur in the form of congenital bony nasal stenosis, choanal …
Long Term Incidence and Outcomes of Sinonasal and Otologic Disease in Patients With Pyriform Aperture Stenosis and Choanal Atresia.
Godse NR, Lu N, Shaffer AD, Stapleton AL. Godse NR, et al. J Craniofac Surg. 2022 Jul-Aug 01;33(5):1409-1412. doi: 10.1097/SCS.0000000000008604. Epub 2022 Mar 11. J Craniofac Surg. 2022. PMID: 35275859
Pyriform aperture stenosis (PAS) and choanal atresia (CA) are 2 anatomic causes of newborn nasal obstruction. ...Coloboma, Heart, Choanal Atresia, Growth Retardation, Genitourinary, Ear Syndrome and unilateral CA correlated significantly with th …
Pyriform aperture stenosis (PAS) and choanal atresia (CA) are 2 anatomic causes of newborn nasal obstruction. ...Coloboma, Hea …
Natural history of non-lethal Raine syndrome during childhood.
Mameli C, Zichichi G, Mahmood N, Elalaoui SC, Mirza A, Dharmaraj P, Burrone M, Cattaneo E, Sheth J, Gandhi A, Kochar GS, Alkuraya FS, Kabra M, Mercurio G, Zuccotti G. Mameli C, et al. Orphanet J Rare Dis. 2020 Apr 16;15(1):93. doi: 10.1186/s13023-020-01373-0. Orphanet J Rare Dis. 2020. PMID: 32299476 Free PMC article.
The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. ...The most common neonatal comorbidi …
The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal …
Uveal coloboma: clinical and basic science update.
Chang L, Blain D, Bertuzzi S, Brooks BP. Chang L, et al. Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6. Curr Opin Ophthalmol. 2006. PMID: 16932062 Review.
CHD7 mutations have been identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth, genital anomalies, and ear anomalies or deafness). ...Genetically, colobomata demonstrate pleiotropy, heterogeneity, variable expr …
CHD7 mutations have been identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarde …
Robinow syndrome: a diagnosis at the fingertips.
Murali CN, Keena B, Zackai EH. Murali CN, et al. Clin Dysmorphol. 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. Clin Dysmorphol. 2018. PMID: 29864040 Free PMC article.
Pregnancy was complicated by maternal diabetes, and birth weight was 4.1 kg. She was prenatally diagnosed with hypoplastic left heart syndrome and omphalocele. Postnatally, she was found to have cleft lip and palate, two natal teeth, choanal atresia, bilatera …
Pregnancy was complicated by maternal diabetes, and birth weight was 4.1 kg. She was prenatally diagnosed with hypoplastic left heart syn …
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.
Hall RK, Bankier A, Aldred MJ, Kan K, Lucas JO, Perks AG. Hall RK, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997 Dec;84(6):651-62. doi: 10.1016/s1079-2104(97)90368-1. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997. PMID: 9431535 Review.
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 r …
The spectrum of anomalies and associated features present in these cases--solitary median maxillary central incisor, choanal atres …
Unilateral CHARGE association.
Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW. Trip J, et al. Eur J Pediatr. 2002 Feb;161(2):78-80. doi: 10.1007/s00431-001-0870-z. Eur J Pediatr. 2002. PMID: 11954755 Review.
The CHARGE association refers to a combination of congenital malformations. This boy had left-sided anomalies consisting of choanal atresia, coloboma and peripheral facial palsy. The infant had a frontal encephalocele, an anomaly not included in the definitions of C …
The CHARGE association refers to a combination of congenital malformations. This boy had left-sided anomalies consisting of choanal …
87 results