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Journal List > J Med Genet > v.24(3); Mar 1987

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J Med Genet. 1987 March; 24(3): 172–174.
PMCID: PMC1049953
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Microcephaly, microphthalmos, and retinal folds: report of a family.
I D Young, A R Fielder, and K Simpson
Abstract
A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Jarmas AL, Weaver DD, Ellis FD, Davis A. Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome. Am J Dis Child. 1981 Oct;135(10):930–933. [PubMed]
  • Warburg M. Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds. Trans Ophthalmol Soc U K. 1979 Jul;99(2):272–283. [PubMed]
  • Godel V, Goodman RM. X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females. Clin Genet. 1981 Oct;20(4):260–266. [PubMed]
  • Nishimura M, Yamana T, Sugino M, Kohno T, Yamana Y, Minei M, Sanui H. Falciform retinal fold as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol. 1983;27(1):40–53. [PubMed]
  • Bixler D, Antley RM. Microcephalic dwarfism in sisters. Birth Defects Orig Artic Ser. 1974;10(7):161–165. [PubMed]
  • Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol. 1978 Jan;85(1):88–94. [PubMed]
  • Duker JS, Weiss JS, Siber M, Bieber FR, Albert DM. Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. Am J Ophthalmol. 1985 Jan 15;99(1):51–55. [PubMed]
  • Juberg RC, Mowrey PN. Interstitial del(13q) associated with blindness and mental retardation. Am J Med Genet. 1984 Mar;17(3):609–613. [PubMed]
  • MASUDA Y. [Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriages.]. Rinsho Ganka. 1962 Mar;16:325–331. [PubMed]
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