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Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.<\/jats:p>","DOI":"10.1136\/jmg.24.3.172","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"172-174","source":"Crossref","is-referenced-by-count":15,"title":["Microcephaly, microphthalmos, and retinal folds: report of a family."],"prefix":"10.1136","volume":"24","author":[{"given":"I D","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A R","family":"Fielder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1001\/archpedi.1981.02130340036013","article-title":"Microcephaly, microphthalmia, falciform retinal folds and blindness","volume":"135","author":"Jarmas, A.L.; Weaver, D.D.; Ellis, F.D.; Davis, A.","year":"1981","unstructured":"Jarmas AL, Weaver DD, Ellis FD, Davis A. 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X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females. Clin Genet 1981;20:260-6.","journal-title":"Clin Genet"},{"key":"ref_4","first-page":"40","article-title":"Falciform retinal fold as sign of familial exudative vitreoretinopathy","volume":"27","author":"Nishimura, M.; Yamana, T.; Sugino, M.","year":"1983","unstructured":"Nishimura M, Yamana T, Sugino M, et al. Falciform retinal fold as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol 1983;27:40-53.","journal-title":"Jpn J Ophthalmol"},{"key":"ref_5","first-page":"161","article-title":"Microcephalic dwarfism in sisters","author":"Bixler, D.; Antley, R.M.","year":"1974","unstructured":"Bixler D, Antley RM. Microcephalic dwarfism in sisters. 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Arch Ophthalmol 1941;25:93-100.","journal-title":"Arch Ophthalmol"},{"key":"ref_10","first-page":"325","article-title":"Two cases of ablatio falciformis congenita and two other cases of ocular congenital anomalies, which appeared in a pedigree with consanguineous marriages","volume":"16","author":"Masuda, Y.","year":"1962","unstructured":"Masuda Y. Two cases of ablatio falciformis congenita and two other cases of ocular congenital anomalies, which appeared in a pedigree with consanguineous marriages. Jpn J Clin Ophthalmol 1962;16:325-3 1.","journal-title":"Jpn J Clin Ophthalmol"},{"key":"ref_11","article-title":"SUMMARY We present the first case of a de novo translocation resulting in dup(3p). Giemsa banding studies tentatively identified the Received for publication","year":"1985","unstructured":"SUMMARY We present the first case of a de novo translocation resulting in dup(3p). Giemsa banding studies tentatively identified the Received for publication 27 September 1985. 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