Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships

American Journal of Medical Genetics

Volumn 127 A, Issue 2, 2004, Pages 172-182

  Schram, Aaltje ^a   Kroes, Hester Y ^a,c   Sollie, Krystyna ^a   Timmer, Bert ^a   Barth, Peter ^b   Van Essen, Ton ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Autosomal recessive; Candidate genes; Etiology; Fetal brain disruption sequence; Microhydrancephaly; Pathogenesis; Prenatal diagnosis; Recurrence risk; Review

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BRAIN DEGENERATION; BRAIN DEVELOPMENT; BRAIN DISEASE; BRAIN NERVE CELL; CASE REPORT; CHROMOSOME 16; FAMILY; FEMALE; FETAL BRAIN DISRUPTION SEQUENCE; GENE DISRUPTION; GENETIC DISORDER; GENETIC HETEROGENEITY; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; MALE; MEDICAL LITERATURE; NEWBORN; PATHOGENESIS; PHENOTYPE; POPULATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIGION; REVIEW; SIBLING; VIRUS INFECTION;

GENETTA; RAPHIA FRATER;

EID: 2442419774     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20645     Document Type: Review

References (31)

1. Alexander IE, Tauro GP, Bankier A. 1995. Fetal brain disruption sequence in sisters. Eur J Pediatr 154:654-657.
2. Bellini C, Massocco D, Serra G. 2000. Prenatal cocaine exposure and the expanding spectrum of brain malformations. Arch Intern Med 160:2393.
3. Bönneman CG, Meinecke P. 1990. Fetal brain disruption sequence: A milder variant. J Med Genet 27:273-274.
4. Corona-Rivera JR, Corona-Rivera E, Romero-Velarde E, Hernandez-Rocha J, Bobadilla-Morales L, Corona-Rivera A. 2001. Report and review of the fetal brain disruption sequence. Eur J Pediatr 160:664-667.
5. DeJonge M, Poulik J. 1997. Pathological case of the month. Arch Pediatr Adolesc Med 151:1267-1268.
6. Dobyns WB, Pagon RA, Armstrong D, Curry CJR, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, Zimmerman RL. 1989. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32:195-210.
7. Durkin MV, Kaveggia EG, Pendleton E, Neuhäuser G, Opitz JM. 1976. Analysis of etiologic factors in cerebral palsy with severe mental retardation. Eur J Pediatr 123:67-81.
8. Edwards MJ. 1969. Congenital defect in guinea pigs: Prenatal retardation of brain growth of guinea pigs following hyperthermia during gestation. Teratology 2:329-336.
9. Fathallah-Shaykh H, Wolf S, Wong E, Posner JB, Furneaux HM. 1991. Cloning of a leucine-zipper protein recognized by the sera of patients with antibody-associated paraneoplastic cerebellar degeneration. Proc Natl Acad Sci USA 88:3451-3454.
10. Gabis L, Gelman-Kohan Z, Mogilner M. 1997. Microcephaly due to fetal brain disruption sequence. Case report. J Perinat Med 25:213-215.
11. Gautam P, Phadke SR. 2000. Fetal brain disruption sequence. Indian Pediatr 37:662-664.
12. Halsey JH, Allen N, Chamberlin HR. 1977. Hydranencephaly. In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology, Vol. 30, pt I. Amsterdam: North Holland Publishing Co. pp 661-680.
13. Hartley WJ, Alexander G, Edwards MJ. 1974. Brain cavitation and micrencephaly in lambs exposed to prenatal hyperthermia. Teratology 9:299-304.
14. Hunter AGW. 1993. Hydranencephaly. In: Human malformations and related anomalies, Vol. II. New York: Oxford University Press. pp 74-78.
15. Kavaslar GN, Önengüt S, Derman O, Kaya A, Tolun A. 2000. The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Am J Hum Genet 66:1705-1709.
16. Kurrent JE, Sever JL. 1975. Pathogenesis of intrauterine infections of the brain. In: Gaull EG, editor. Biology of brain dysfunction, Vol. 3, New York: Plenum Press. pp 307-341.
17. Moore CA, Weaver DD, Bull MJ. 1990. Fetal brain disruption sequence. J Pediatr 116:383-386.
18. Murphy KJ, PeBenito R, Storm RL, Ferreti C, Liu DPC. 1990. Walker-Warburg syndrome. Case report: A literature review. Ophthalmic Paediatr Genet II(2):103-108.
19. Myers RE. 1969. Brain pathology following fetal vascular occlusion: An experimental study. Invest Ophthalmol 8:41-50.
20. Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ. 1995. Congenital malformations of the brain. Pathological, embryological, clinical, radiological, and genetic aspects. Oxford: Oxford University Press.
21. Osburn BI, Silverstein AM, Prendergast RA, Johnson RT, Parshall CJ. 1971. Experimental viral-induced congenital encephalopathies. I. Pathology of hydranencephaly and porencephaly caused by a bluetongue vaccine virus. Lab Invest 225:197-205.
22. Rasmussen SA, Frías JL. 1990. Fetal brain disruption sequence: A briefcase report. Dysmorphol Clin Genet 4:53-56.
23. Russell LJ, Weaver DD, Bull MJ, Weinbaum M. 1984. In brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: The fetal brain disruption sequence. Am J Med Genet 17:509-521.
24. Schinzel AAGL, Smith DW, Miller JR. 1979. Monozygotic twinning and structural defects. J Pediatr 95:921-930.
25. Smith DW, Gong BT. 1973. Scalp hair patterning as a clue to early fetal brain development. J Pediatr 83:374-380.
26. Smith DW, Gong BT. 1974. Scalp-hair patterning: Its origin and significance relative to early brain and upper facial development. Teratology 9:17-34.
27. Smith DW, Clarren SK, Harvey MA. 1978. Hyperthermia as a possible teratogenic agent. J Pediatr 92:878-883.
28. Verhage M, Maia AS, Plomp JJ, Brussaard AB, Heeroma JH, Vermeer H, Toonen RF, Hammer RE, van den Berg TK, Missler M, Geuze HJ, Südhof TC. 2000. Synaptic assembly of the brain in the absence of neurotransmitter secretion. Science 287(5454):864-869.
29. Villó N, Beceiro J, Cebrero M, Garcia de Frias E. 2001. Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation. Arch Dis Child Fetal Neonatal Ed 84: F63-F64.
30. Yoshioka H, Kadomoto Y, Mino M, Morikawa Y, Kasubuchi Y, Kusunoki T. 1979. Multicystic encephalomalacia in liveborn twin with stillborn macerated co-twin. J Pediatr 95:798-800.
31. Young S, Cordy DR. 1964. An ovine fetal encephalopathy caused by blue tongue vaccine virus. J Neuropathol Exp Neurol 23:635-659.