Nephrogenic rests and renal abnormalities in Brachmann-de Lange syndrome

Pediatric Pathology and Laboratory Medicine

Volumn 17, Issue 2, 1997, Pages 209-219

  Charles, A K ^a   Porter, H J ^a  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

Author keywords

Brachmann de Lange syndrome; kidney cystic; nephroblastoma; nephrogenic rest

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11; CHROMOSOME 3; CHROMOSOME ABERRATION; DE LANGE SYNDROME; DISEASE ASSOCIATION; FEMALE; FETUS; GENE MUTATION; HISTOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE; KIDNEY CYST; KIDNEY TUMOR; MALE; MULTIPLE MALFORMATION SYNDROME; NEPHROBLASTOMA; NEWBORN; PRIORITY JOURNAL;

DE LANGE SYNDROME; FEMALE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; KIDNEY; KIDNEY DISEASES; KIDNEY DISEASES, CYSTIC; KIDNEY NEOPLASMS; MALE; MUTATION; WILMS TUMOR;

EID: 0030899787     PISSN: 10771042     EISSN: None     Source Type: Journal    
DOI: 10.1080/107710497174868     Document Type: Article

References (35)

1. De Lange C. Sur un type nouveau de generation (typus amstelodamensis). Arch Med Enf 1933; 36:713-9.
2. Jones KL. De Lange syndrome. In: Jones KL, éd. Smith's Recognizable Patterns of Human Malformation, 4th ed. Philadelphia: W. B. Saunders, 1988;80-3.
3. BergJM, McCreary BD, Ridler MAC, Smith GF. The de Lange Syndrome. Oxford: Pergamon Press, 1970.
4. Cunniff C, Curry CJR, CareyJC, et al. Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. AmJ Med Genet 1993;47:1018-21.
5. Benjamin DR,Juul S, Siebert JR. Congenital posterolateral diaphragmatic hernia: Associated malformations. J Pediatr Surg 1988;10:899-903.
6. McArthur RG, Edwards JH. de Lange syndrome: Report of 20 cases. Can Med Assoc J 1967;96: 1185-1198.
7. Westergaard JG, Chemnitz J, Teisner B, et al. Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Brachmann-de Lange syndrome. Prenat Diagn 1983;3:225-32.
8. Beck B, Fenger K. Mortality, pathological findings and causes of death in the de Lange syndrome. Acta Paediatr Scand 1985;74:765-9.
9. Maruiwa M, Nakamura Y, Motomura K, et al. Brachmann-de Lange syndrome associated with Wilms tumour and infantile haemangioendothelioma of the liver: Report of two autopsy cases. Virchows Arch [A] Pathol Anat 1988;413:463-8.
10. De Lange C. Nouvelle observation du typus amstelodamensis et examen anatomo-pathologique de ce type. Arch Med Enf 1938;41:193-203.
11. Gaddy CD, Gibbons MD, Gonzales ET, Finegold MJ. Obstructive uropathy, renal dysplasia and nodular renal dysplasia: Is there a relationship to Wilms tumor?J Urol 1985;134:330-3.
12. Ireland M, English C, Cross I, Houlsby WT, BurnJ. Ade novo translocation t(3;17) (q26.3;q23.1) in a child with Brachmann-de Lange syndrome. J Med Genet 1991;28:639-40.
13. Holder SE, Grimsley LM, Palmer RW, Butler LJ, Baraitser M. Partial trisomy 3q causing mild Brachmann-de Lange phenotype. J Med Genet 1994;31:150-2.
14. Hastie ND. The genetics of Wilms' tumor-a case of disrupted development. Annu Rev Genet 1994;28:523-58.
15. Wilmore HP, White GFJ, Howell RT, Brown KW. Germline and somatic abnormalities of chromosome 7 in Wilms' tumour. Cancer Genet Cytogenet 1994;77:93-8.
16. Schlesinger B, Clayton B, Bodian M. Typus degenerativus Amstelodamensis. Arch Dis Child 1963;38: 349-57.
17. Ptacek LJ, OpitzJM, Smith DW, Gerritsen T, Waisman HA. The Brachmann-de Lange syndrome. J Paediatr 1963;63:1000-20.
18. Thorburn MJ. De Lange's syndrome in a newborn Jamaican infant. Am J Obstet Gynecol 1964; 89:828-9.
19. Gans B, Thurston JGB. De Lange's Amsterdam dwarfs syndrome. Dev Med Child Neurol 1965;7:42-5.
20. Bjorklof K, Brundelet PJ. Typus degenerativus Amstelodamensis (Cornelia de Lange first syndrome). Acta Paediatr Scand 1965;54:275-87.
21. Huang C-C, Emanuel I, Huang S-W, Chen T-Y. Two cases of the BDLS in Chinese infants. J Padiatr 1967;71:251-4.
22. France NE, Crome L, Abraham JM. Pathological features in the BDLS. Acta Paediat Scand 1969; 58:470-80.
23. Zapella M. La sindrome di Brachmann-de Lange. Acta Neurol 1966;21:499-506.
24. Jackson L, Kline AD, Barr MA, Koch S. De Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 1993;47:940-6.
25. Van Alien MI, Filippi G, Siegel-Bartelt J, et al. Clinical variability within Brachmann-de Lange syndrome: A proposed classification system. Am J Med Genet 1993;47:947-58.
26. Wick MR, Simmons PS, LudwigJ, Kleinberg F. Duodenal obstruction, annular pancreas, and horseshoe kidney in an infant with Brachmann-de Lange syndrome. Minn Med 1982;65:539-41.
27. Friede RL. Dysplasias of cerebellum. In: Friede RL, ed. Developmental Neuropathology Berlin: Springer-Verlag, 1989;350.
28. Beckwith JB, Kiviat NB, BonadioJF. Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor. Pediatr Pathol 1990;10:l-36.
29. Nakamura Y, Nakashima H, Fukuda S, et al. Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism. Hum Pathol 1985; 16:754-6.
30. Maw MA, Grundy PE, Millow LJ, et al. A third Wilms' tumor locus on chromosome 16q. Cancer Res 1992;52:3094-8.
31. Kumar D, Blank CE, Griffiths BL. Brachmann-de Lange syndrome in several members of the same family. J Med Genet 1985;22:296-300.
32. Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Brachmann-de Lange syndrome.J Pediatr 1978;93:783-8.
33. Beck B, Mikkelsen M. Chromosomes in the Brachmann-de Lange syndrome. Hum Genet 1981; 59:271-6.
34. Lakshminarayana P, Nallasivam P. Brachmann-de Lange syndrome with ring chromosome 3. J Med Genet 1990;27:405-6.
35. Lopes-Rangel, Dill FJ, Hrynchak MA, Van Alien MI. Partial duplication of 3q (q25.1-q26.1) without the Brachmann-de Lange phenotype. AmJ Med Genet 1993;47:1068-71.