Characterization of limb differences in children with Cornelia de Lange Syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 172, Issue 2, 2016, Pages 155-162

  Mehta, Devanshi ^a   Vergano, Samantha A Schrier ^a   Deardorff, Matthew ^a   Aggarwal, Sarika ^a   Barot, Akash ^a   Johnson, Drew M ^a   Miller, Nathan F ^a   Noon, Sarah E ^a   Kaur, Maninder ^a   Jackson, Laird ^a   Krantz, Ian D ^a  

^a NONE

Author keywords

asymmetry; Cornelia de Lange syndrome; limb defects; mutation status; NIPBL

Indexed keywords

ARM MALFORMATION; BEHAVIORAL SCIENCE; COHORT ANALYSIS; DE LANGE SYNDROME; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NIPBL GENE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; CHILD; COGNITIVE DEFECT; CONGENITAL DISORDER; GENETICS; LEG MALFORMATION; LIMB MALFORMATION; MUTATION; PATHOLOGY; RETROSPECTIVE STUDY;

CHILD; COGNITION DISORDERS; CONGENITAL ABNORMALITIES; DE LANGE SYNDROME; HUMANS; LIMB DEFORMITIES, CONGENITAL; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MUTATION; RETROSPECTIVE STUDIES; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 84966480725     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31498     Document Type: Review

References (24)

1. Allard P, Tabin CJ. 2009. Achieving bilateral symmetry during vertebrate limb development. Semin Cell Dev Biol 20:479–484.
2. Bamshad M, Watkins WS, Dixon ME, Le T, Roeder AD, Kramer BE, Carey JC, Jorde LB. 1999. Reconstructing the history of human limb development: Lessons from birth defects. Pediatr Res 45:291–299.
3. Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM. 1993. Radiological features in Brachmann-de Lange syndrome. Am J Med Genet 47:1006–1013.
4. Brown NA, Hoyle CI, McCarthy A, Wolpert L. 1989. The development of asymmetry: The sidedness of drug-induced limb abnormalities is reversed in situs inversus mice. Development 107:637–642.
5. Chapman DL, Agulnik I, Hancock S, Silver LM, Papaioannou VE. 1996. Tbx6, a mouse T-box gene implicated in paraxial mesoderm formation at gastrulation. Dev Biol 180:534–542.
6. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. 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 80:485–494.
7. Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. 1998. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review. Am J Med Genet 79:215–225.
8. Evans JA. 2007. Diaphragmatic defects and limb deficiencies – taking sides. Am J Med Genet Part A 143A:2106–2112.
9. Gibson-Brown JJ, Agulnik SI, Chapman DL, Alexiou M, Garvey N, Silver LM, Papaioannou VE. 1996. Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity. Mech Dev 56:93–101.
10. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li H, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610–623.
11. Halal F, Preus M. 1979. The hand profile on de Lange syndrome: Diagnostic criteria. Am J Med Genet 3:317–323.
12. Jackson L, Kline AD, Barr MA, Koch S. 1993. de Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47:940–946.
13. Layton WM, Hallesy DW. 1965. Deformity of forelimb in rats: Association with high doses of acetazolamide. Science 149:306–308.
14. Lee FA, Kenny FM. 1967. Skeletal changes in the Cornelia de Lange syndrome. Am J Roentgenol Radium Ther Nucl Med 100:27–39.
15. Messerle K, Webster WS. 1982. The classification and development of cadmium-induced limb defects in mice. Teratology 25:61–70.
16. Niswander L. 2002. Interplay between the molecular signals that control vertebrate limb development. Int J Dev Biol 46:877–881.
17. Opitz JM, Utkus A. 2001. Comments on biological asymmetry. Am J Med Genet 101:359–369.
18. Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA. 2010. Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet Part A 152A:1641–1653.
19. Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A, Goujard J, Stoll C, Cocchi G, Merlob P, Mutchinick O, Cornel MC, Castilla EE, Martínez-Frías ML, Zampino G, Erickson JD, Mastroiacovo P. 2000. Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. Am J Med Genet 93:110–116.
20. Schreiner CM, Scott WJ Jr., Supp DM, Potter SS. 1993. Correlation of forelimb malformation asymmetries with visceral organ situs in the transgenic mouse insertional mutation, legless. Dev Biol 158:560–562.
21. Slavotinek AM, Warmerdam B, Lin AE, Shaw GM. 2007. Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. Am J Med Genet 143A:3127–3136.
22. Smith AT, Sack GH Jr., Taylor GJ. 1979. Holt-Oram syndrome. J Pediatr 95:538–543.
23. Torfs CP, Curry CJR, Bateson TF, Honoré LH. 1992. A population-based study of congenital diaphragmatic hernia. Teratology 46:555–565.
24. Wilson JG, Maren TH, Takano K, Ellison A. 1968. Teratogenic action of carbonic anhydrase inhibitors in rat. Teratology 1:51–60.