Abstract
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.
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- Anyane-Yeboa K., Collins M., Kupsky W., Maidman J., Malin J., Yeh M. Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation. Am J Med Genet. 1987 Apr;26(4):899–907. doi: 10.1002/ajmg.1320260418. [DOI] [PubMed] [Google Scholar]
- Aughton D. J., Cassidy S. B. Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis. Am J Med Genet. 1987 Aug;27(4):935–942. doi: 10.1002/ajmg.1320270421. [DOI] [PubMed] [Google Scholar]
- Cohen M. M., Jr Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology. 1989 Sep;40(3):211–235. doi: 10.1002/tera.1420400304. [DOI] [PubMed] [Google Scholar]
- Krassikoff N., Konick L., Gilbert E. F. The hydrolethalus syndrome. Birth Defects Orig Artic Ser. 1987;23(1):411–419. [PubMed] [Google Scholar]
- Moerman P., Fryns J. P. Holoprosencephaly and postaxial polydactyly: another observation. J Med Genet. 1988 Jul;25(7):501–502. doi: 10.1136/jmg.25.7.501. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Salonen R., Herva R., Norio R. The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet. 1981 May;19(5):321–330. doi: 10.1111/j.1399-0004.1981.tb00718.x. [DOI] [PubMed] [Google Scholar]
- Shiota K., Tanimura T. Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo. J Med Genet. 1988 Jul;25(7):502–503. doi: 10.1136/jmg.25.7.502. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Young I. D., Madders D. J. Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly. J Med Genet. 1987 Nov;24(11):714–715. doi: 10.1136/jmg.24.11.714. [DOI] [PMC free article] [PubMed] [Google Scholar]