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1Academic Journal
Συγγραφείς: N. V. Rumiantseva, O. M. Khurs, I. V. Novikova, N. A. Venchikova, O. L. Zobikova, Н. В. Румянцева, О. М. Хурс, И. В. Новикова, Н. А. Венчикова, О. Л. Зобикова
Πηγή: Medical Genetics; Том 19, № 1 (2020); 13-23 ; Медицинская генетика; Том 19, № 1 (2020); 13-23 ; 2073-7998
Θεματικοί όροι: пренатальная диагностика, autosomal recessive inheritance, diaphragmatic hernia, phalanges and nails hypoplasia or aplasia, polydactyly, ectrodactyly, prenatal diagnostics, аутосомно-рецессивный тип наследования, диафрагмальная грыжа, гипоплазия/аплазия терминальных фаланг и ногтевых пластинок, полидактилия, эктродактилия
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/764/470; Fryns J.P., Moerman F., Goddeeris P. et al. A new lethal syndrome with cloudy cornea, diaphragmatic defects and distal limb deformities. Hum. Genet. 1979; 50(1): 65–70.; Ayme S., Julian C., Gambarelli D. et al. Fryns Syndrome: report on 8 new cases. Clin. Genet. 1989; 35(3): 191–201.; Schwyzer U., Briner J., Schinzel A. Fryns syndrome in a girl born to consanguineous parents. Acta. Paediatr. Scand. 1987; 76(1): 167–171.; Roy M., Chikkannaiah P., Bali A. Congenital diaphragmatic hernia with hypoplastic lungs, heart, and additional anomalies: A case of? Fryns syndrome. J. NTR. Univ. Health. Sci. 2013; 2(2): 130–132.; Lubinsky M., Severn C., Rapoport J.M. Fryns Syndrome: A new variable multiple congenital anomaly (MCA) syndrome. Am. J. Med. Genet. 1983; 14(3): 461–466.; Moerman P., Fryns J.P., Vandenberghe K. et al. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am. J. Med. Genet. 1988; 31(4): 805–814.; Bamforth J.S., Leonard C.O., Chodirker B.N. et al. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Am. J. Med. Genet. 1989; 32(1): 93-–99.; Alessandri J.L., Cuillier F., Malan V. et al. Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. Am. J. Med. Genet. 2014; 164A(3): 648–654.; Alessandri J.L., Gordon C.T., Jacquemont M.L. et al. Recessive loss of function PIGN alleles, including an intragenic deletion with Fryns syndrome. Eur. J. Hum. Genet. 2018; 26(3): 340–349.; McInerney-Leo A.M., Harris J.E., Gattas M. et al. Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum. Mutat. 2016; 37(7): 695–702.; Slavotinek A.M. Fryns Syndrome: a review of the phenotype and diagnostic guidelines. Am. J. Med. Genet. 2004; 124A(4): 427–433.; Lin A.E., Pober B.R., Mullen M.P., Slavotinek A.M. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am. J. Med. Genet. 2005; 139(3): 186–193.; Pellissier M.C., Philip N., Potier A. et al. Prenatal diagnosis of Fryns’ syndrome. Prenat. Diagn. 1992; 12(4): 299–303.; Ramsing M., Gillesen-Kaesbach G., Holzgreve W. et al. Variability in the phenotypic expression of Fryns syndrome: a report of two sibships. Am. J. Med. Genet. 2000; 95(5): 415–424.; Vargas J.E., Cox G.F., Korf B.R. Discordant phenotype in monozygotic twins with Fryns syndrome. Am. J. Med. Genet. 2000; 94(1): 42–45.; Pratap A., Agrawal A., Raja S. et al. Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. Singapore Med. J. 2007; 48(4): 106.; Nirmaladevi M., Kurup S., Ajitha E.V. Fryns syndrome in monozygotic twins – a case report with review of literature. Int. J. Morphol. 2012; 30(1): 56–60.; Arora К., Thukral А., Das R.R. et al. Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings. Indian J. Pediatr. 2014; 81(6): 614–616.; Samueloff A., Navot D., Birkenfeld A., Schenker J.G. Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. Am. J. Obstet. Gynecol. 1987; 156(1): 86–88.; Dentici M.L., Brancati F., Mingarelli R., Dallapiccola B. A 6-years old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. Eur. J. Med. Genet. 2009; 52(6): 421–425.; Peron A., Bedeschi M.F., Fabietti I. et al. Prenatal and postnatal findings in five cases of Fryns syndrome. Prenat. Diagns. 2014; 34(12): 1227–1230.; Новикова И.В., Ковалев С.И., Мараховская Э.И. Семейный случай синдрома Фринса у двух плодов II триместра. Пренатальная диагностика. 2018; 17(2): 164–169.; Ильина Е.Г., Новикова И.В., Ершова А.А. и др. Три случая синдрома Фринса, диагностированных пренатально в городе Минске за один месяц. Медицинская генетика. 2010; (5): 44–47.; Bulas D.I., Saal H.M., Allen J.F. et al. Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns syndrome. Prenat. Diagn. 1992; 12(11): 867–875.; Arakeri S.U., Manchanda J. Congenital diaphragmatic hernia associated with Fryns syndrome – an autopsy study. J. Evol. Med. Dent. Scienc. 2012; 1(5): 703–706.; Dwivedi T., Hungund B. Fryns syndrome: a rare case report with review of literature. J. NTR. Univ. Health Sci. 2018; 7(2): 147–153.; Manouvrier-Hanu S., Devisme L., Vaast P. et al. Fryns syndrome and erupted teeth in a 24-week-old fetus. Genet. Couns. 1996; 7(2): 131–134.; Wymersch D.V., Favre R., Gasser B. Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome. Fetal. Diagn. Ther. 1996; 11(5): 335–340.; Sheffield J.S., Twickler D.M., Timmons C. et al. Fryns syndrome: prenatal diagnosis and pathologic correlation. J. Ultrasound. Med. 1998; 17(9): 585–589.; Saliani P., Epstein S., Cohen D. The role of ultrasound in the diagnosis of Fryns syndrome. J. Diagn. Med. Sonogr. 2004; 20(1): 42–45.; Benacerraf B.R., Sadow P.M., Barnewolt C.E. et al. Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns’ syndrome. Ultrasound Obste.t Gynecol. 2006; 27(5): 566–570.; Yucesoy G., Cakiroglu Y., Caliskan E. Fryns syndrome: case report and review of the literature. J. Clin. Ultrasound. 2008; 36(5): 315–317.; Tosun M., Celik H., Bese E. et al. Prenatal diagnosis of Fryns syndrome: a case report. Gynecol. Obstet. Reprod. Med. 2009; 15(1): 47–49.; Плотко И.С., Федотов В.П., Соболева И.А., Машнев Е.Ю. Пренатальная диагностика редких врожденных пороков и синдромов. XXXII. Синдром Фринса. Пренатальная диагностика. 2009; 8(2): 112–114.; Tatar A., Öztas S., Örs R. A case with Fryns syndrome-like phenotype. AÜTD. 2005; 37: 19-21.; Brady P.D., Moerman P., De Catte L. et al. Exome sequencing identifies a recessive PING splice mutation as a cause of syndromic congenital diaphragmatic hernia. Eur. J. Med. Genet. 2014; 57(9): 487–493.; Saal H.M., Bulas D.I. Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum. Clinl. Dysmorphol. 1995; 4(3): 246–250.