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Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

✍ Scribed by Shanske, Alan; Marion, Robert

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 1001 B
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980518)77:3<250::aid-ajmg13>3.0.co;2-f

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✦ Synopsis

Recently, Shanske, et al. [1997]

reported central nervous system anomalies in Seckel syndrome. We described what we thought to be the seventh instance of affected sibs born to normal parents and only the second family in which consanguinity had occurred. Imaging studies in our patient showed dysgenetic cerebral changes including pachygyria and a medially located dorsal cyst. We described these changes as only the third report of cerebral dysgenesis in Seckel syndrome.

It has come to our attention that we had omitted reference to three affected sibs with Seckel syndrome from a probably consanguineous family reported by Dr.

Victor McKusick and colleagues in 1967. Furthermore, it is also clear that the neuropathologic findings described in cases 1 and 2 in that report are also consistent with cerebral dysgenesis.

We hope that the incorporation of the above cases will contribute to the accuracy of our report.

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