Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1641-1653

  Rohatgi, Sarika ^a   Clark, Dinah ^a   Kline, Antonie D ^b   Jackson, Laird G ^c   Pie, Juan ^d   Siu, Victoria ^e   Ramos, Feliciano J ^d   Krantz, Ian D ^a,f   Deardorff, Matthew A ^a,f  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b Harvey Institute of Human Genetics   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF ZARAGOZA   (Spain)

^e CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Brachmann de Lange syndrome; Cornelia de Lange syndrome; Dysmorphology; Facial features; Facies; Mild; NIPBL; Severe; SMC1; SMC1A; SMC1L1; SMC3; Survey

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DE LANGE SYNDROME; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; EYEBROW; FACIES; FEMALE; GENE MUTATION; HUMAN; INFANT; MALE; MEDICAL PHOTOGRAPHY; MEDICAL SPECIALIST; MICROGNATHIA; MUTATOR GENE; NEWBORN; NIPBL GENE; NOSE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; SCHOOL CHILD; SMC1A GENE; SMC3 GENE; UPPER LIP; CLINICAL COMPETENCE; COHORT ANALYSIS; HEALTH SURVEY; YOUNG ADULT;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CLINICAL COMPETENCE; COHORT STUDIES; DE LANGE SYNDROME; FACIES; HEALTH SURVEYS; HUMANS; INFANT; INFANT, NEWBORN; YOUNG ADULT;

EID: 77954105200     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33441     Document Type: Article

References (20)

1. Allanson JE, Hennekam RC, Ireland M. 1997. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet 34:645-650.
2. Bhuiyan Z, Klein M, Hammond P, Mannens MM, Van Haeringen A, Van Berckelaer-Onnes I, Hennekam RC. 2005. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience. J Med Genet 43:568-575.
3. Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. 2007. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. Hum Mutat 28:205-206.
4. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez 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.
5. Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, 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.
6. Hunter AG, Collins JS, Deardorff MA, Krantz ID. 2009. Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines. Am J Med Genet Part A 149A:2181-2192.
7. Ireland M. 1996. Cornelia de Lange syndrome: Clinical features, common complications and long-term prognosis. Curr Paediatr 6:69-73.
8. Ireland M, Burn J. 1993. Cornelia de Lange syndrome-photo essay. Clin Dysmorphol 2:151-160.
9. Ireland M, Donnai D, Burn J. 1993. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 47:959-964. (Pubitemid 23323391)
10. 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. (Pubitemid 23323389)
11. Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet Part A 143A:1287-1296.
12. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635.
13. Musio A, Selicorni A, Focarelli ML,Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38:528-530.
14. Nasmyth K, Haering CH. 2005. The structure and function of SMC and kleisin complexes. Annu Rev Biochem 74:595-648.
15. Preus M, Rex AP. 1983. Definition and diagnosis of the Brachmann-De Lange syndrome. Am J Med Genet 16:301-312.
16. Rollins RA, Korom M, Aulner N, Martens A, Dorsett D. 2004. Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene. Mol Cell Biol 24:3100-3111. (Pubitemid 38452056)
17. Selicorni A, Russo S,Gervasini C, Castronovo P, Milani D, Cavalleri F, Bentivegna A, Masciadri M, Domi A, Divizia MT, Sforzini C, Tarantino E, Memo L, Scarano G, Larizza L. 2007. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. Clin Genet 72:98-108.
18. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. 2004. 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 36:636-641.
19. Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A, Reynolds JH. 1993. Clinical variability within Brachmann-de Lange syndrome: A proposed classification system. Am J Med Genet 47:947-958.
20. Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. 2006. Mutational and genotypephenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet Part A 140A:1531-1541.