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- W4247174004 abstract "Three patients are described with defects of blastogenesis and predominantly midline defects. Two were sibs of whom the firstborn were female cephalothoracopagus-conjoined twins with multiple predominantly midline defects initially thought to be a sporadic occurrence. A subsequent brother presented with severe hydrocephalus, rhombencephalosynapsis, conotruncal defect, ambiguous genitalia, and unilateral pre-axial polydactyly; an autosomal recessive defect is postulated in this case. Patient 3 had hydrocephalus, small cerebellum, cleft lip and palate, and a large sacrococcygeal teratoma, the better differentiated part of which included ovarian tissue with primordial follicles. The latter may occur in incomplete twinning as a defect of blastogenesis. The mother had had a previous termination of a fetus with hydrocephalus from a different relationship. Counseling was difficult since no examinations were done on the previous fetus and no further investigations of this family could be obtained, but a genetic origin is suspected. Most defects of blastogenesis are sporadic; however, some cases have a genetic cause and ultrasound examinations should be offered in subsequent pregnancies. Am. J. Med. Genet. 91:175–179, 2000. © 2000 Wiley-Liss, Inc." @default.
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- W4247174004 date "2000-03-20" @default.
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- W4247174004 title "Defects of blastogenesis: Counseling dilemmas in two families" @default.
- W4247174004 doi "https://doi.org/10.1002/(sici)1096-8628(20000320)91:3<175::aid-ajmg3>3.3.co;2-j" @default.
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