Abstract
Three infants are described, one with the Neu-Laxova syndrome and two with the cerebro-oculo-facio-skeletal (COFS) syndrome. The relationship between these two syndromes is discussed in the light of the present cases and others in published reports.
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Selected References
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- Dolman C. L., Wright V. J. Necropsy of original case of Lowry's syndrome. J Med Genet. 1978 Jun;15(3):227–229. doi: 10.1136/jmg.15.3.227. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Laxova R., Ohara P. T., Timothy J. A. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res. 1972 Jun;16(2):139–143. doi: 10.1111/j.1365-2788.1972.tb01585.x. [DOI] [PubMed] [Google Scholar]
- Lazjuk G. I., Lurie I. W., Ostrowskaja T. I., Cherstvoy E. D., Kirillova I. A., Nedzved M. K., Usoev S. S. Brief clinical observations: the Neu-Laxova syndrome--a distinct entity. Am J Med Genet. 1979;3(3):261–267. doi: 10.1002/ajmg.1320030304. [DOI] [PubMed] [Google Scholar]
- Lowry R. B., MacLean R., McLean D. M., Tischler B. Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. J Pediatr. 1971 Aug;79(2):282–284. doi: 10.1016/s0022-3476(71)80114-2. [DOI] [PubMed] [Google Scholar]
- Lurie I. W., Cherstvoy E. D., Lazjuk G. I., Nedzved M. K., Usoev S. S. Further evidence for the autosomal-recessive inheritance of the COFS syndrome. Clin Genet. 1976 Dec;10(6):343–346. doi: 10.1111/j.1399-0004.1976.tb00059.x. [DOI] [PubMed] [Google Scholar]
- Neu R. L., Kajii T., Gardner L. I., Nagyfy S. F. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics. 1971 Mar;47(3):610–612. [PubMed] [Google Scholar]
- Pena S. D., Evans J., Hunter A. G. COFS syndrome revisited. Birth Defects Orig Artic Ser. 1978;14(6B):205–213. [PubMed] [Google Scholar]
- Pena S. D., Shokeir M. H. Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. Clin Genet. 1974;5(4):285–293. doi: 10.1111/j.1399-0004.1974.tb01695.x. [DOI] [PubMed] [Google Scholar]
- Povýsilová V., Macek M., Salichová J., Seemanová E. Letální syndrom mnohocetných malformací u trí sourozenců. Cesk Pediatr. 1976 Apr;31(4):190–194. [PubMed] [Google Scholar]
- Preus M., Fraser F. C. The cerebro-oculo-facio-skeletal syndrome. Clin Genet. 1974;5(4):294–297. doi: 10.1111/j.1399-0004.1974.tb01696.x. [DOI] [PubMed] [Google Scholar]
- Preus M., Kaplan P., Kirkham T. H. Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome. Am J Dis Child. 1977 Jan;131(1):62–64. doi: 10.1001/archpedi.1977.02120140064010. [DOI] [PubMed] [Google Scholar]
- Scott-Emuakpor A. B., Heffelfinger J., Higgins J. V. A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome? Am J Dis Child. 1977 Feb;131(2):167–169. doi: 10.1001/archpedi.1977.02120150049010. [DOI] [PubMed] [Google Scholar]
- Surana R. B., Fraga J. R., Sinkford S. M. The cerebro-oculo-facio-skeletal syndrome. Clin Genet. 1978 Jun;13(6):486–488. doi: 10.1111/j.1399-0004.1978.tb01203.x. [DOI] [PubMed] [Google Scholar]



