Forme familiale d'hypertélorisme avec lissencéphalie se présentant cliniquement sous forme d'une arriération mentale avec epilepsie et paraplégie spasmodique

Reznik, M.; Alberca-Serrano, R.

doi:10.1016/0022-510x(64)90053-x

Cited by 12 publications

(1 citation statement)

References 11 publications

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“…More extensive family histories in so-called sporadic cases might produce more evidence in favor of a rare recessive gene if distant cousin relationships were established. On the other hand, the family reported by Reznick and Alberca-Serrano (1964) was clinically less severe and showed combined agyria and pachygyria. Since the mother had hypertelorism and epileptiform seizures, McKusick (1971) suggested the possibility of sex-linked recessive inheritance in that family.…”

Section: Discussionmentioning

confidence: 91%

Lissencephaly

Norman

Roberts

Sirois

et al. 1976

Can. j. neurol. sci.

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SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either varying gene expressivity or gene-tic heterogeneity. Lissencephaly and pachygyria may eventually be shown to be due to different causes, some inherited, some acquired. The classical examples of lissencephaly are different morphologically from a case in which antenatal cytomegalovirus infection had produced a small smooth brain. This suggests that antenatal viral infections are destructive rather than teratogenic.

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Section: Discussionmentioning

confidence: 91%

Lissencephaly

Norman

Roberts

Sirois

et al. 1976

Can. j. neurol. sci.

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Further comments on the lissencephaly syndromes

1985

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Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these disorders, especially chromosomally normal MDS, ILS, and CCL, too few patients have been reported to permit citation of accurate recurrence risk figures. Accordingly, we wish to begin a registry of patients with lissencephaly of all types for the purpose of developing such risk figures and request that any available information be sent to one of us (W.B.D. or J.M.O.).

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Congenital Abnormalities

Becker¹,

McCarthy²

1986

Diagnostic Imaging in Ophthalmology

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Forme familiale d'hypertélorisme avec lissencéphalie se présentant cliniquement sous forme d'une arriération mentale avec epilepsie et paraplégie spasmodique

Cited by 12 publications

References 11 publications

Lissencephaly

Lissencephaly

Further comments on the lissencephaly syndromes

Congenital Abnormalities

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