Summary
Two cases of Cornelia de Lange syndrome associated with infantile haemangioendothelioma of the liver and Wilms' tumour are reported. The patients showed the characteristic facies of the Cornelia de Lange syndrome, with synophrys, long curly eyelashes and small upturned nose, and physical features, including generalized hirsutism, monodactyly, syndactyly and clinodactyly. Post-mortem examination revealed annular pancreas, patency of the foramen ovale, duodenal atresia and evidence of cytomegalic infection. The cases are reported to document a possible association between malformations and neoplasms in this syndrome.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Babu KA, Verma RS, Rodriguez J, Rosenfeld W, Jhaveri RC (1985) A possible clinical implication of homozygous inversions of 9th regions with Cornelia de Lange syndrome (CLS). Hum Hered 35:265–267
Bankier A (1986) Letter to the editor: Familial occurrence of Brachmann-de Lange syndrome. Am J Med Genet 25:163–165
Beck B (1974) Familial occurrence of Cornelia de Lange syndrome. Acta Pediatr Scand 63:225–231
Beck B, Mikkelsen M (1981) Chromosomes in the Cornelia de Lange syndrome. Hum Genet 59:271–276
Bolande RP (1984) Models and concepts derived from human teratogenesis and oncogenesis in early life. J Histochem Cytochem 32:878–884
Borghi A, Giusti G, Bigozzi U (1954) Nanismo degenerativo tipo di Amsterdam. Presentazione di un caso e considerazioni di orgine genetico. Acta Genet Med Gemellol 3:365
Cohen MM Jr (1982) The child with multiple birth defects. Raven Press, New York
Dehner LP, Ishak KG (1971) Vascular tumors of the liver in infants and children. Arch Path 92:101–111
De Lange C (1933) Sur un type nouveau de degeneration (Typus Amstelodamensis). Arch de Med Enf 36:713–719
Hersh JH, Dale KS, Gerald PS, Yen FF, Weisskopf B, Dinno ND (1985) Dup(4p)del(9p) in a familial mental retardation syndrome: Resemblance to de Lange syndrome detected by high-resolution banding. AJDC 139:81–84
Knudson AG Jr (1971) Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820–823
Kumar D, Blank CE, Griffiths BL (1985) Cornelia de Lange syndrome in several members of the same family. J Med Genet 22:296–300
Lachman R, Funamura J, Szalay G (1981) Gastrointestinal abnormalities in the Cornelia de Lange syndrome. Mt Sainai J Med 48:236–240
Leavitt A, Dinno N, Davis C (1985) Cornelia de Lange syndrome in a mother and daughter. Clin Genet 28:157–161
Lemerle J, Tournade MF, Marchant RG, Flamant R, Sarrazin D, Flamant F, Lemerle M, Jundt S, Zucker JM, Schweisguth O (1976) Wilms' tumor: Natural history and prognostic factors. Cancer 37:2557–2566
Matsunaga E (1981) Genetics of Wilms' tumor. Hum Genet 57:231–246
McArthur RG, Edwards JH (1967) De Lange syndrome: Report of 20 cases. Can Med Assoc J 96:1185–1198
Opitz JM (1985) Editorial comment: The Brachamann-de Lange syndrome. Am J Med Genet 22:89–102
Preus M, Rex AP (1983) Definition and diagnosis of the Brachamann-de Lange syndrome. Am J Med Genet 16:301 312
Ptacek LJ, Opitz JH, Smith DW, Gerritsen T, Waisman HA (1963) The Cornelia de Lange syndrome. J Pediatr 63:1000–1020
Riccardi VM, Sujansky E, Smith AC, Francke U (1978) Chromosomal imbalance in the Aniridia-Wilms' tumor associations: 11p interstitial deletion. Pediatr 61:604–610
Schlesinger B, Clayton B, Bodian M, Jones KV (1963) Typus degenerativus amstelodamensis. Arch Dis Child 38:349–357
Solomon E (1984) Recessive mutation in aetiology of Wilms' tumour. Nature 309:111–112
Sugita K, Izumi T, Yamaguchi K, Fukuyama Y, Sato A, Kajita A (1986) Cornelia de Lange syndrome associated with a suprasellar germinoma. Brain Dev 8:541–546
Turleau C, De Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R (1984) Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Human Genet 62:219–221
Watson A (1979) Cornelia de Lange syndrome: occurrence in twins. Aust J Dermatol 20:7–9
Westergaard JG, Chemnitz J, Teisner B, Poulsen HK, Ipsen L, Beck B, Grudzinskas JG (1983) Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome. Prenat Diagn 3:225–232
Wick MR, Simmons PS, Ludwig J, Kleinberg F (1982) Duodenal obstruction, annular pancreas and horseshoe kidney in an infant with Cornelia de Lange syndrome. Minn Med 65:539–541
Yunis JJ, Ramsey N (1978) Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 132:161–163
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Maruiwa, M., Nakamura, Y., Motomura, K. et al. Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases. Vichows Archiv A Pathol Anat 413, 463–468 (1988). https://doi.org/10.1007/BF00716995
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00716995