Abstract
The incidence of holoprosencephaly with normal chromosomes has been estimated at between 1 in 16 000 and 1 in 53 394 live births. It has been found that during a 3-year period in the Bristol and Weston Health District there were six cases of holoprosencephaly, two of which were familial, and these cases are described. This represents an incidence of 1 in 5200 and during the preceding 3-year period the incidence in the same area was 1 in 14 520 births.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BINNS W., JAMES L. F., SHUPE J. L., THACKER E. J. Cyclopian-type malformation in lambs. Arch Environ Health. 1962 Aug;5:106–108. doi: 10.1080/00039896.1962.10663251. [DOI] [PubMed] [Google Scholar]
- BISHOP K., CONNOLLY J. M., CARTER C. H., CARPENTER D. G. HOLOPROSENCEPHALY: A CASE REPORT WITH NO EXTRACRANIAL ABNORMALITIES AND NORMAL CHROMOSOME COUNT AND KARYOTYPE. J Pediatr. 1964 Sep;65:406–414. doi: 10.1016/s0022-3476(64)80405-4. [DOI] [PubMed] [Google Scholar]
- Begleiter M. L., Harris D. J. Holoprosencephaly and endocrine dysgenesis in brothers. Am J Med Genet. 1980;7(3):315–318. doi: 10.1002/ajmg.1320070312. [DOI] [PubMed] [Google Scholar]
- DEMYER W., ZEMAN W., PALMER C. D. FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. Neurology. 1963 Nov;13:913–918. doi: 10.1212/wnl.13.11.913. [DOI] [PubMed] [Google Scholar]
- DEMYER W., ZEMAN W., PALMER C. G. THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY). Pediatrics. 1964 Aug;34:256–263. [PubMed] [Google Scholar]
- DOMINOK G. W., KIRCHMAIR H. [Familial incidence of malformations of the arhinencephalia group]. Z Kinderheilkd. 1961;85:19–30. [PubMed] [Google Scholar]
- Dallaire L., Fraser F. C., Wiglesworth F. W. Familial holoprosencephaly. Birth Defects Orig Artic Ser. 1971 Jun;7(7):136–142. [PubMed] [Google Scholar]
- Godeano D., Winter S. T., Dar H. Familial holoprosencephaly with median cleft lip. J Genet Hum. 1973 Sep;21(3):223–228. [PubMed] [Google Scholar]
- Hintz R. L., Menking M., Sotos J. F. Familial holoprosencephaly with endocrine dysgenesis. J Pediatr. 1968 Jan;72(1):81–87. doi: 10.1016/s0022-3476(68)80403-2. [DOI] [PubMed] [Google Scholar]
- Holmes L. B., Driscoll S., Atkins L. Genetic heterogeneity of cebocephaly. J Med Genet. 1974 Mar;11(1):35–40. doi: 10.1136/jmg.11.1.35. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Khan M., Rozdilsky B., Gerrard J. W. Familial holoprosencephaly. Dev Med Child Neurol. 1970 Feb;12(1):71–76. doi: 10.1111/j.1469-8749.1970.tb01862.x. [DOI] [PubMed] [Google Scholar]
- LANDAU J. W., BARRY J. M., KOCH R. Arhinencephaly. J Pediatr. 1963 Jun;62:895–900. doi: 10.1016/s0022-3476(63)80104-3. [DOI] [PubMed] [Google Scholar]
- Ming P. M., Goodner D. M., Park T. S. Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature. Am J Dis Child. 1976 Aug;130(8):864–867. doi: 10.1001/archpedi.1976.02120090074014. [DOI] [PubMed] [Google Scholar]
- Myrianthopoulos N. C., Chung C. S. Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project. Birth Defects Orig Artic Ser. 1974;10(11):1–58. [PubMed] [Google Scholar]
- Roach E., Demyer W., Conneally P. M., Palmer C., Merritt A. D. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294–313. [PubMed] [Google Scholar]
- Van Leeuwen G., James E. Familial cebocephaly. Case description and survey of the anomaly. Clin Pediatr (Phila) 1970 Aug;9(8):491–493. [PubMed] [Google Scholar]