Durán-Padilla MA, Solís-Solís V

Language: Spanish
References: 19
Page: 196-199
PDF size: 339.83 Kb.

ABSTRACT

We report a newborn preterm with anomalies of prune belly and VACTERL with hydrocephallus syndromes. The autopsy presented Potter sequence, low-set ears, and microtia, abdominal distention, single umbilical artery. There was common AV canal, common arteriosus truncus, unilobular right and trilobular left lungs, Meckel’s diverticulum, high anorectal malformation. In he kidney there was glomerulocistic disease, calyces and pelvis dilation, left uretero with valve, megacistic bladder, permeable uraco, hypoplasic prostate with urethral stenosis dysplasia of vertebras and anomalies in the number of ribs, hydrocephalia with agenesic of septum pellucidum. The failure in the origin of urinary obstruction could be produced in early stage embrionary development, overlaped with malformation of VACTER-H and prune belly syndromes. We didn’t found previous reports in the literature.

REFERENCES

1. Sujansky E, Leonard B. VACTERL association with hydrocephalus-A new recessive syndrome? Am J Med Genet 1983; 35:119 A.

2. Briard ML, LeMerrer M, Plauchu H. Association VACTERL et hydrocephalie: Une nouvelle entité familiale. Ann Genet (Paris) 1984; 27: 220-223.

3. Aleksic S, Budzilovich G, Greco MA. Neural defects in Say Gerard (VATER) syndrome. Chil Brian 1984; 11: 255-260.

4. Lubisnky M. Current concepts: VATER and other associations: Historical perspectives and modern interpretations. Am J Hum Genet 1986; 9: 16.

5. Hunter AGW, McMurray B. Malformations of the VATER association plus hydrocephalus in a male infant and his maternal uncle. Proc Greenwood Genet Center 1987; 6: 146-147.

6. Evans JA, Stranc L, Kaplan P, Hunter AGW. VACTERL and hydrocephalus: Further delineation of the syndrome. Am J Med Genet 1989; 34: 177-182.

7. Iafolla AK, McConkie-Rosell A, Chen YT. VATER and hydrocephalus: Distinct syndrome? Am J Med Genet 1991; 38: 46-45.

8. Lurie IW, Ferencz CH. VACTERL-Hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community. Am J Med Genet 1997; 70: 144-149.

9. Porteous ME, Cross I, Burn J. VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies? Am J Med Genet 1992; 43: 1032-1034.

10. Greskovich FJ, Nyberg LM. The prune belly syndrome: A review of its etiology, defects, treatment and prognosis. J Urology 1988; 140: 707-712.

11. Quan L, Smith DW. The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects. J Pediatr 1973; 82: 104-107.

12. Wang H, Hunter AGW, Clifford B, McLaughlin M, Thompson D. VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am J Med Genet 1993; 47: 114-117.

13. Froster UG, Wallner SJ, Reusche E, Schwinger E, Rehder H. VACTER with hydrocephalus and branchial arch defects: Prenatal clinical and autopsy findings in two brothers. Am J Med Genet 1996; 62: 169-172.

14. Rossbach HCh, Sutcliffe MJ, Haag MM, Grana NH, Rossi AR. Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. Am J Med Genet 1996; 61: 65-67.

15. Cox PM, Gibson RA, Morgan N, Brueton LA. VACTERL hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene. Am J Med Genet 1997; 68: 86-90.

16. Rogers LW, Ostrow PT. The prune belly syndrome. Report of 20 cases and description of a lethal variant. J Pediatr 1973; 83: 786-793.

17. Durán MA, Rivero de Jesús V, Macias B. La variante letal del síndrome prune belly. Informe de dos casos. Rev Med Hosp Gen Mex 1999; 62: 206-209.

18. Oztuk B, Weber HP, Ganz A. Concordance of prune belly syndrome and VACTERL association. Klin Pediatr 1994; 206: 406-409.

19. Lukusa T, Moerman P, Fryns JP. Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. Genet Couns (Switzerland) 1996; 7: 207-212.