Neuroimaging features of Cornelia de Lange syndrome

Pediatric Radiology

Volumn 45, Issue 8, 2015, Pages 1198-1205

  Whitehead, Matthew T ^a   Nagaraj, Usha D ^a,b   Pearl, Phillip L ^a,c  

^a Department of Radiology ^*  (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Anterior segment; Brachmann de Lange syndrome; Children; Clivus; Cornelia de Lange syndrome; Fenestration; Hypoplasia; Magnetic resonance imaging; Micrencephaly; Segmentation; Skull base

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATLANTOAXIAL SUBLUXATION; BASILAR ARTERY FENESTRATION; BASILAR INVAGINATION; BILATERAL CHOLESTEATOMA; BILATERAL COCHLEAR DYSPLASIA; BILATERAL COCHLEAR HYPOPLASIA; BILATERAL MALLEUS MALFORMATION; BILATERAL VESTIBULAR DYSPLASIA; BRAIN; BRAIN RADIOGRAPHY; BRAIN STEM; CEREBELLUM; CEREBROVASCULAR DISEASE; CHILD; CHOLESTEATOMA; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTRAST ENHANCEMENT; DE LANGE SYNDROME; ENDPLATE IRREGULARITY; FEMALE; FOCAL POSTEROMEDIAL VESTIBULAR PROTRUSION; FORAMEN MAGNUM STENOSIS; GRAY MATTER; HUMAN; INCUS MALFORMATION; INFANT; INNER EAR DISEASE; INNER EAR VESTIBULE; MALE; MENINX; NEUROIMAGING; NEURORADIOLOGIST; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC PATHWAY HYPOPLASIA; OSSICULAR DYSPLASIA; OSSICULAR EROSION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCOLIOSIS; SEGMENTATION ANOMALY; SKULL BASE DYSPLASIA; SKULL DISEASE; SPINE DISEASE; TEMPORAL BONE; TETHERED CORD SYNDROME; VERTEBROBASILAR HYPOPLASIA; VERTEBROBASILAR INSUFFICIENCY; VISUAL DISORDER; WHITE MATTER; PATHOLOGY; PRESCHOOL CHILD; RADIOGRAPHY; SPINE; YOUNG ADULT;

ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; DE LANGE SYNDROME; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NEUROIMAGING; RETROSPECTIVE STUDIES; SPINE; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84938971480     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-015-3300-5     Document Type: Article

References (40)

1. Mannini L, Cucco F, Quarantotti V et al (2013) Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 34:1589–1596
2. Zuin J, Franke V, van Ijcken WF et al (2014) A cohesion-independent role for NIPBL at promoters provides insights in CdLS. PLoS Genet 10:e1004153
3. Cheng YW, Tan CA, Minor A et al (2014) Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med 2:115–123
4. Pavlidis E, Cantalupo G, Bianchi S et al (2014) Epileptic features in Cornelia de Lange syndrome: case report and literature review. Brain Dev 36:837–843
5. Kline AD, Krantz ID, Sommer A et al (2007) Cornelia del Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 143A:1287–1296
6. Ireland M, Burn J (1993) Cornelia de Lange syndrome – photo essay. Clin Dysmorphol 2:151–160
7. Selcorni A, Russo S, Gervasini C et al (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
8. Rohatgi S, Clark D, Kline AD et al (2010) Facial diagnosis of mild and variant CdLS: insights from a dysmorphologist survey. Am J Med Genet A 152A:1641–1653
9. Liu J, Krantz ID (2009) Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet 76:303–314
10. Verotti A, Agostinelli S, Prezioso G et al (2013) Epilepsy in patients with Cornelia de Lange syndrome: a clinical series. Seizure 22:356–359
11. Vuilleumier N, Kovari E, Michon A et al (2002) Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathol 104:327–332
12. Yamaguchi K, Ishitobi F (1999) Brain dysgenesis in Cornelia de Lange syndrome. Clin Neuropathol 18:99–105
13. Bettini LR, Locatelli L, Mariani M et al (2014) Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients. Am J Med Genet A 164A:1520–1524
14. Yamamoto K, Horiuchi K, Uemura K et al (1987) Cornelia de Lange syndrome with cleft palate. Int J Oral Maxillofac Surg 16:484–491
15. Verma L, Passi S, Gauba K (2010) Brachmann de Lange syndrome. Contemp Clin Dent 1:268–270
16. Barkovich AJ (2000) Congenital malformations of the brain and skull. In: Barkovich AJ (ed) Pediatric Neuroimaging, 3rd edn. Lippincott Williams & Wilkins, Philadelphia, pp 251–381
17. Selicorni A, Colli AM, Passarini A et al (2009) Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome. Am J Med Genet A 149A:1268–1272
18. Marchisio P, Selicorni A, Pignataro L et al (2008) Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome. Am J Med Genet A 146A:426–432
19. Selicorni A, Sforzini C, Milani D et al (2005) Anomalies of the kidney and urinary tract are common in de Lange syndrome. Am J Med Genet 132A:395–397
20. Luzzani S, Macchini F, Valade A et al (2003) Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 119A:283–287
21. Cunniff C, Curry CJ, Carey JC et al (1993) Congenital diaphragmatic hernia in the Brachmann-de Lange Syndrome. Am J Med Genet 47:1018–1021
22. Braddock SR, Lachman RS, Stoppenhagen CC et al (1993) Radiological features in Brachmann-de Lange syndrome. Am J Med Genet 47:1006–1013
23. Levin AV, Seidman DJ, Nelson LB et al (1990) Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus 27:94–102
24. Kliewer MA, Kahler SG, Hertzberg BS et al (1993) Fetal biometry in the Brachmann-de Lange syndrome. Am J Med Genet 47:1035–1041
25. Ozkinay F, Cogulu O, Gunduz C et al (1998) A case of Brachmann de Lange syndrome with cerebellar vermis hypoplasia. Clin Dysmorphol 7:303–305
26. Hayashi M, Sakamoto K, Kurata K et al (1996) Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. Acta Neuropathol 92:625–630
27. Nieuwenhuys R, Voogd J, Van Huijzen C (2008) The human central nervous system, 4th edn. Springer, Berlin, p 255
28. Nayak SB, Soumya KV (2010) Unusually large interthalamic adhesion and its clinical importance. Int J Anat Var 3:174–175
29. Sen F, Ulubay H, Ozeksi P et al (2005) Morphometric measurements of the thalamus and interthalamic adhesion by MR imaging. Neuroanatomy 4:10–12
30. Rosales RK, Lemay MJ, Yakovley PI (1968) The development and involution of massa intermedia with regard to age and sex. J Neuropathol Exp Neurol 27:166
31. Malobabic S, Puskas L, Blagotic M (1987) Size and position of the human adhaesio interthalmica. Gegenbaurs Morphol Jahrb 133:175–184
32. Vittore CP, Murray RA, Martin LS (2005) Case 79: pituitary duplication. Radiology 234:411–414
33. Napoulos PC, Rideout D, Crespo-Facorro B et al (2001) Sex differences in the absence of massa intermedia in patients with schizophrenia versus healthy controls. Schizophr Res 48:177–185
34. Sugita K, Izumi T, Yamaguchi K et al (1986) Cornelia de Lange syndrome associated with a suprasellar germinoma. Brain Dev 8:541–546
35. Sato A, Kajita A, Sugita K et al (1986) Cornelia de Lange syndrome with intracranial germinoma. Acta Pathol Jpn 36:143–149
36. Morris P (2007) Practical neuroangiography, 2nd edn. Lippincott Williams & Wilkins, Philadelphia, p 118
37. Sasaki T, Kaga K, Ohira Y et al (1996) Temporal bone and brain stem histopathological findings in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 36:195–204
38. Yamanobe S, Ohtani I (2001) Temporal bone pathology in Cornelia de Lange syndrome. Otol Neurotol 22:57–60
39. Kim J, Kim EY, Lee JS et al (2008) Temporal bone CT findings in Cornelia de Lange syndrome. AJNR Am J Neuroradiol 29:569–573
40. Beltramello A, Puppini G, El-Dalati G et al (1998) Fossa navicularis magna. AJNR Am J Neuroradiol 19:1796–1798