Summary
A case of trisomy 21 with holoprosencephaly, the fifth case in the literature, is described. The patient also had extracephalic malformations frequently associated with Down syndrome. The possibility of a causal relationship between trisomy 21 and holoprosencephaly is discussed.
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Byrne, P.J., Silver, M.M., Gilbert, J.M., Cadera, W. and Tanswell, A.K. 1987. Cyclopia and congenital cytomegalovirus infection.Am. J. Med. Genet. 28: 61–65.
Cohen, M.M., Jr. and Gorlin, R.J. 1969. Genetic considerations in a sibship of cyclopia and clefts.Birth Defects Orig. Art. Ser. V(2): 113–118.
Corsello, G., Buttitta, P., Cammarata, M., Presti, A.L., Maresi, E., Zumpani, L. and Giuffré, L. 1990. Holoprosencephaly: Examples of clinical variability and etiologic heterogeneity.Am. J. Med. Genet. 37: 244–249.
DeMyer, W., Zeman, W. and Palmer, C.G. 1964. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly).Pediatrics 34: 256–263.
Epstein, C.J., Seto, S. and Golabi, M. 1988. Chancevs. causality in the association of Down syndrome and holoprosencephaly.Am. J. Med. Genet. 30: 939–942.
Kuroki, Y. and Konishi, H. 1984. Current status and perspectives in the Kanagawa birth defects monitoring program (KAMP).Cong. Anom. 24: 385–393.
Martinez-Frias, M.L. 1989. Association of holoprosencephaly and Down syndrome.Am. J. Med. Genet. 32: 435.
Moerman, P., Fryns, J.-P., van der Steen, K., Kleczkowska, A. and Lauweryns, J. 1988. The pathology of trisomy 13 syndrome: A study of 12 cases.Hum. Genet. 80: 349–356.
Seidlitz, G., Kadow, I., Theel, L., Pietsch, P., Rudel, J., Schneider, K. and Schroeter, C. 1983. Genetische Aspekte und humangenetische Beratung der Holoprosencephalie.Dt. Gesundh.-Wesen 38: 665–669.
Pi, S.-Y., Fineman, R.M., Wing, S.D., Grunnet, M. and Chan, G. 1980. Holoprosencephaly in a Down syndrome child.Am. J. Med. Genet. 5: 201–206.
Urioste, M., Valcarcel, E., Gomez, M.A., Pinel, I., Garcia de León, R., Diaz de Bustamante, A., Tebar, R. and Martinez-Frias, M.L. 1988. Holoprocencephaly and trisomy 21 in a child born to a nondiabetic mother.Am. J. Med. Genet. 30: 925–928.
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Hamada, H., Arinami, T., Koresawa, M. et al. A case of trisomy 21 with holoprosencephaly: The fifth case. Jap J Human Genet 36, 159–163 (1991). https://doi.org/10.1007/BF01876579
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DOI: https://doi.org/10.1007/BF01876579