Cervical spine malformation in cornelia de lange syndrome: A report of three patients

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1520-1524

  Bettini, Laura Rachele ^a   Locatelli, Laura ^a   Mariani, Milena ^a   Cianci, Paola ^a   Giussani, Carlo ^a   Canonico, Francesco ^a   Cereda, Anna ^a   Russo, Silvia ^b   Gervasini, Cristina ^c   Biondi, Andrea ^a   Selicorni, Angelo ^a  

^a SAN GERARDO HOSPITAL   (Italy)

^b IRCCS   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

Cervical spine malformation; Cornelia de lange syndrome; NIPBL

Indexed keywords

PROTON PUMP INHIBITOR; NIPBL PROTEIN, HUMAN; PROTEIN;

ARTICLE; CASE REPORT; CENTRAL SLEEP APNEA SYNDROME; CERVICAL SPINE; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; DE LANGE SYNDROME; EXON; FACE DYSMORPHIA; FETUS; FETUS ECHOGRAPHY; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MALE; MIXED HEARING LOSS; NEWBORN; NIPBL GENE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; POLYSOMNOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SPINE MALFORMATION; SPINE RADIOGRAPHY; STOMACH FUNDOPLICATION; STOP CODON; SYNDACTYLY; ARM MALFORMATION; GENETICS; PATHOLOGY;

CERVICAL VERTEBRAE; DE LANGE SYNDROME; HUMANS; MALE; PROTEINS; PSYCHOMOTOR DISORDERS; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 84899974274     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36457     Document Type: Article

References (25)

1. Barboni C, Cereda A, Mariani M, Gervasini C, Ajmone P, Biondi A, Selicorni A. 2012. A new report of Cornelia de Lange syndrome associated with split hand and feet. Am J Med Genet Part A 158A:2953-2955.
2. Basile E, Villa L, Selicorni A, Molteni M. 2007. The behavioural phenotype of Cornelia de Lange Syndrome: A study of 56 individuals. J Intellect Disabil Res 51:671-681.
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. Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. 2012a. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489:313-317.
5. Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. 2012b. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 90:1014-1027.
6. Dogan DG, Dogan M, Aslan M, Karabiber H. 2010. Bilateral split feet: A new finding in Cornelia de Lange syndrome. Genet Couns 21:221-224.
7. Dorsett D. 2009. Cohesin, gene expression and development: Lessons from Drosophila. Chromosome Res 17:185-200.
8. Gervasini C, Picinelli C, Azzollini J, Rusconi D, Masciadri M, Cereda A, Marzocchi C, Zampino G, Selicorni A, Tenconi R, Russo S, Larizza L, Finelli P. 2013. Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet 14:41.
9. Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. 2013. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 50:339-344.
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.
11. Kim HJ. 2013. Cervical spine anomalies in children and adolescents. Curr Opin Pediatr 25:72-77.
12. Kline AD, Barr M, Jackson LG. 1993a. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 47:1042-1049.
13. Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. 1993b. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 47:1053-1058.
14. 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.
15. 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.
16. Lee FA, Kenny FM. 1967. Skeletal changes in the Cornelia de Lange syndrome. Am J Roentgenol Radium Ther Nucl Med 100:27-39.
17. McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. 2012. Review of cervical spine anomalies in genetic syndromes. Spine (Phila Pa 1976) 37:E269-E277.
18. Misulovin Z, Schwartz YB, Li XY, Kahn TG, Gause M, MacArthur S, Fay JC, Eisen MB, Pirrotta V, Biggin MD, Dorsett D. 2008. Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma 117:89-102.
19. 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.
20. Pang D, Thompson DN. 2011. Embryology and bony malformations of the craniovertebral junction. Childs Nerv Syst 27:523-564.
21. Roposch A, Bhaskar AR, Lee F, Adedapo S, Mousny M, Alman BA. 2004. Orthopaedic manifestations of Brachmann-de Lange syndrome: A report of 34 patients. J Pediatr Orthop B 13:118-122.
22. Selicorni A, Sforzini C, Milani D, Cagnoli G, Fossali E, Bianchetti MG. 2005. Anomalies of the kidney and urinary tract are common in de Lange syndrome. Am J Med Genet Part A 132A:395-397.
23. Selicorni A, Colli AM, Passarini A, Milani D, Cereda A, Cerutti M, Maitz S, Alloni V, Salvini L, Galli MA, Ghiglia S, Salice P, Danzi GB. 2009. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet Part A 149A:1268-1272.
24. Shirley ED, Ain MC. 2009. Achondroplasia: Manifestations and treatment. J Am Acad Orthop Surg 17:231-241.
25. 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.