کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2814015 | 1569507 | 2012 | 4 صفحه PDF | دانلود رایگان |
We describe a multiple malformation syndrome comprising coronal craniosynostosis, unilateral radial ray hypoplasia and diaphragmatic hernia in a 33w female fetus born to a 46 y-old male with an alleged personal and family history of Crouzon syndrome. By identifying an already described c.445C>T TWIST missense mutation, we were able to reassign the diagnosis of the family condition to Saethre-Chötzen syndrome. The present report illustrates clinical variability of a dominantly inherited TWIST mutation and provides a third example of Baller-Gerold/Saethre-Chötzen overlapping phenotype. We also add diaphragmatic hernia in the spectrum of TWIST-related malformations, although we couldn't prove the co-occurrence is not coincidental.
► We describe a fetus with Baller-Gerold phenotype and diaphragmatic hernia.
► Father had a family history of Crouzon syndrome, reassigned to Saethre-Chötzen syndrome.
► We illustrate the clinical variability of a dominantly inherited TWIST mutation.
► We add diaphragmatic hernia in the spectrum of TWIST-related malformations.
► We provide a third example of Baller-Gerold/Saethre-Chötzen overlapping phenotype
Journal: European Journal of Medical Genetics - Volume 55, Issue 12, December 2012, Pages 719–722