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The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism

✍ Scribed by R. Martínez y Martínez; R. Ocampo-Campos; R. Pérez-Arroyo; E. Corona-Rivera; J. M. Cantú

Publisher
Springer
Year
1985
Tongue
English
Weight
796 KB
Volume
143
Category
Article
ISSN
0340-6997

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✦ Synopsis

Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.

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✍ Hunter, Alasdair G. W. ;Allanson, Judith E. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 645 KB

We have carried out a follow-up study of 13 children with Wiedemann-Beckwith syndrome (WBS) using a standard protocol which included facial anthropometric measurements. W e confirm that most patients with WBS do well and that their clinical abnormalities become less apparent with age. W e suggest th