Abstract
Harlequin Ichthyosis is a rare, fatal congenital disorder of keratinization characterized by thickened, scale-like plaques of skin with a diamond configuration. Autosomal recessive inheritance has been established, and prenatal diagnosis for this disorder remains controversial. Five infants with this disorder were born among approximately 25,000 Navajo women who delivered in Gallup, New Mexico from 1970 to 1989. The incidence of 1 in 5000 among the Navajo in Gallup is high compared to previous reports in other populations. Two families with affected infants were seen in a genetics outreach clinic. Two important counseling issues were raised: (1) reluctance to discuss the possibility of recurrence for fear of affecting the outcome, and (2) feelings of guilt caused by cultural beliefs which attributed the birth defect to paternal behavior during pregnancy. Such issues are encountered in many traditional cultures, and they can be addressed by tailoring the timing and content of counseling.
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References
Arnold ML, Anton-Lamprecht I (1985) Problems in prenatal diagnosis of the ichthyosis congenita group.Human Genet 71(4):301–311.
Blanchet-Bardon C, Dumez Y, Labbe F, Lutzner MA, Puissant A, Henrion R, Bernheim A (1983) Prenatal diagnosis of harlequin fetus (letter).Lancet 1:132.
Burney LR, Dumars KW, Chea CS, Nguyen HD, Bustillo AM (1987) The Southeast Asian refugee: The impact of cultural variation on the genetic counseling process.Birth Defects 23(6):239–244.
Elias S, Mazur M, Sabbagha R, Esterly NB, Simpson JL (1980) Prenatal diagnosis of harlequin ichthyosis.Clin Genet 17:275–280.
Indian Health Service (1991)Trends in Indian Health—1991. Washington, D.C.: U.S. Department of Health and Human Services.
Kenen RH (1980) Negotiations, superstitions, and the plight of individuals born with severe birth defects.Soc Sci Med 14A:279–286.
Kessler S (1979)Genetic Counseling: Psychological Dimensions. New York: Academic Press.
Kessler S, Kessler H, Ward P (1984) Psychological aspects of genetic counseling. III. Management of guilt and shame.Am J Med Genet 17:673–697.
McKusick VA (1992)Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. Baltimore: Johns Hopkins University Press.
Mihalko M, Lindfors KK, Grix AW, Brant WE, McGahan JP. (1989) Prenatal sonographic diagnosis of harlequin ichthyosis.Am J Radial 153:827–828.
Paul N, Kavanagh L (1990) Genetic services for underserved populations.Birth Defects 26(2):244.
Suzumori K, Kanzaki T (1991) Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases.Prenatal Diag 11:451–457.
Waxman AG (1990) Navajo childbirth in transition.Med Anthropol 12:187–206.
Williams ML (1990) Ichthyosis, harlequin fetus. In: Buyse ML (ed)Birth Defects Encyclopedia. Dover: Center for Birth Defects Information Services.
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Olney, P.N., Olney, R.S. Harlequin Ichthyosis among the Navajo: Counseling issues. J Genet Counsel 2, 3–8 (1993). https://doi.org/10.1007/BF00962555
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DOI: https://doi.org/10.1007/BF00962555