Keywords :
Bushy syndrome, Cornelia de Lange syndrome, Feeding plate
Citation Information :
Tarenia S, Mishra A, Samal S, Monika K. A Mild Form of Bushy Syndrome in a Neonate: A Rare Case Report. CODS J Dent 2021; 13 (1):30-33.
The paper reports a rare case of mild form of Bushy syndrome with facial abnormalities. Other names for this syndrome are Cornelia de Lange syndrome/Brachmann- de Lange syndrome/Amsterdam dwarfism/Bushy syndrome. Few case reports were reported in the literature and this case report was presented with the motto of fabricating feeding palate in this syndromic patient and the procedure is similar to that of any other cleft palate.
DeScipio C, Kaur M, Yaeger D, et al. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 2005;137A(3):276–282. DOI: 10.1002/ajmg.a.30857
Cheung K, Upton J. Cornelia de Lange syndrome. J Hand Surg Am 2015;40(12):2501–2503. DOI: 10.1016/j.jhsa.2015.07.023
Peter D, Turnpenny, Sian Ellard Emery's Elements of Medical Genetics, Fifteenth. Amsterdam, Netherlands: Elsevier Limited; 2017.
Kline AD, Moss JF, Selicorni A, et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018;19(10):649–666. DOI: 10.1038/s41576-018-0031-0
Sarogni P, Pallotta MM, Musio A. Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. J Med Genet 2020;57(5):289–295. DOI: 10.1136/jmedgenet-2019-106277
Van Allen MI, Filippi G, Siegel-Bartelt J, et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am J Med Genet 1993;47(7):947–958. DOI: 10.1002/ajmg.1320470704
Preus M, Rex AP. Definition and diagnosis of the Brachmann-De Lange syndrome. Am J Med Genet 1983;16(3):301–312. DOI: 10.1002/ajmg.1320160303
Allanson JE, Hennekam RC, Ireland M. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J Med Genet 1997;34(8):645–650. DOI: 10.1136/jmg.34.8.645
Id K. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004;36:631–635. DOI: 10.1038/ng1364
Tonkin ET, Wang T-J, Lisgo S, et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004;36(6):636–641. DOI: 10.1038/ng1363
Musio A, Selicorni A, Focarelli ML, et al. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 2006;38(5):528–530. DOI: 10.1038/ng1779
Deardorff MA, Kaur M, Yaeger D, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007;80(3):485–494. DOI: 10.1086/511888
Gillis LA, McCallum J, Kaur M, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 2004;75(4):610–623. DOI: 10.1086/424698
Yan J, Saifi GM, Wierzba TH, et al. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A 2006;140(14):1531–1541. DOI: 10.1002/ajmg.a.31305
Bhuiyan ZA, Klein M, Hammond P, et al. Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. J Med Genet 2006;43(7):568–575. DOI: 10.1136/jmg.2005.038240
