{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:14:32Z","timestamp":1760908472270,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,7]]},"abstract":"<jats:p>Cases of holoprosencephaly which occurred in the west of Scotland over the past 20 years were ascertained from genetics, paediatric, and pathology department records. Fifty cases were identified of which 17 had an underlying cytogenetic abnormality. Of the remaining 33 cases, 26 were delivered after 28 weeks' gestation giving a birth prevalence of 1 in 26730. Twenty-one babies were liveborn and nine children are currently alive. All survivors are profoundly mentally retarded and most have seizures. Twenty-eight patients with non-chromosomal holoprosencephaly had a total of 23 sibs and three families were identified where there was either recurrence of holoprosencephaly (one family), a related cerebral malformation (one family), or mental handicap (one family) giving an overall recurrence risk for serious neurological disability of 12% (standard error 7%). We conclude that holoprosencephaly does not necessarily breed true and this observation should be taken into account when giving genetic counselling and attempting ultrasound prenatal diagnosis after the birth of an affected child.<\/jats:p>","DOI":"10.1136\/jmg.33.7.578","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"578-584","source":"Crossref","is-referenced-by-count":39,"title":["Holoprosencephaly in the west of Scotland 1975-1994."],"prefix":"10.1136","volume":"33","author":[{"given":"M L","family":"Whiteford","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Tolmie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,7,1]]},"reference":[{"key":"ref_1","first-page":"431","volume-title":"Handbook of clinical neurology","author":"In, De Myer W.","year":"1977","unstructured":"De Myer W. In: Vinkin PJ, Bruyn GW, eds. Handbook of clinical neurology. Amsterdam: North Holland, 1977: 431-78."},{"key":"ref_2","first-page":"294","article-title":"Holoprosencephaly: birth data, genetic and demographic analyses of 30 families","volume":"11","author":"Roach, E.; De Myer, W.; Conneally, P.M.","year":"1975","unstructured":"Roach E, De Myer W, Conneally PM, et al. Holoprosencephaly: birth data, genetic and demographic analyses of 30 families. Birth Defects 1975;11:294-313.","journal-title":"Birth Defects"},{"key":"ref_3","first-page":"1","article-title":"Congenital malformations in singletons: epidemiological survey","volume":"11","author":"Myrianthopoulos, N.C.; Chung, C.S.","year":"1974","unstructured":"Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiological survey. Birth Defects 1974;X(11): 1-58.","journal-title":"Birth Defects"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/jmg.21.1.21","article-title":"What is the incidence of holoprosencephaly?","volume":"21","author":"Saunders, E.S.; Shortland, D.; Dunn, P.M.","year":"1984","unstructured":"Saunders ES, Shortland D, Dunn PM. What is the incidence of holoprosencephaly? Jf Med Genet 1984;21:21-6.","journal-title":"Jf Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1001\/archpedi.1976.02120090074014","article-title":"Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature","volume":"130","author":"Ming, P.M.; Goodner, D.M.; Park, T.S.","year":"1976","unstructured":"Ming PM, Goodner DM, Park TS. Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature. 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Part I, Cohen MM Jr. Perspectives","year":"1989","unstructured":"Cohen MM Jr. Perspectives on holoprosencephaly. Part I. Epidemiology, genetics and syndromology. Teratology 1989;40:211-35.","journal-title":"Epidemiology, genetics and syndromology. Teratology"},{"key":"ref_9","first-page":"8102","article-title":"Linkage of a human brain malformation, familial holoprosencephaly, to chromosome","volume-title":"7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA","volume":"91","author":"Muenke, M.; Gurriere, F.; Bay, C.","year":"1994","unstructured":"Muenke M, Gurriere F, Bay C, et al. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. 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