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The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism |
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| Authors: | R. Martínez y Martínez R. Ocampo-Campos R. Pérez-Arroyo E. Corona-Rivera J. M. Cantú |
| Affiliation: | (1) División de Genética, Subjefatura de Investigación Científica, Unidad de Investigación Biomédica, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Apartado Postal 1-3838, Guadalajara, Jalisco, México;(2) Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Hospital de Pediatría, Guadalajara, Jalisco, Mexico;(3) Departmento de Anatomía Patológica, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México |
| Abstract: | 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.Abbreviations WBS Wiedemann-Beckwith syndrome - ADI autosomal dominant inheritance |
| Keywords: | Familial Wiedemann-Beckwith syndrome Congenital hypothyroidism Autosomal dominant inheritance Delayed mutation Non-penetrance |
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