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B.B. Heim

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Articles by B.B. Heim

EP06.77: Non‐immune fetal hydrops: Consider Kabuki syndrome

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By B.B. Heim, L. Giurcaneanu
| Wiley Online Library Verified
We present a case of non-immune fetal hydrops with abdominal ascites and hydrocele. After amniocentesis the karyotype and microarray came back as normal, however the whole exome sequence (R21) detected a gene mutation in keeping with Kabuki syndrome. Postnatally the hydrops resolved, however the baby had other features in keeping with Kabuki syndrome that could not have been detected by prenatal ultrasound (gastroesophageal reflux, hearing loss, ASD, pseudoarthrosis of right clavicle).
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EP07.48: A very rare association of Turner syndrome with Dandy‐Walker malformation

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By M. Heim, B.B. Heim
| Wiley Online Library Verified
We present a case of a pregnancy complicated by multiple fetal abnormalities, cystic hygroma, hypoplastic aortic arch, short limbs, bilateral talipes, and Dandy-Walker malformation. The baby became hydropic and subsequently the intrauterine demise was diagnosed at 21+5w gestation. The patient declined prenatal invasive diagnostic tests, however postmortem examination confirmed the ultrasound finding of Dandy-Walker malformation and the karyotype was confirmed as a monosomy X (Turner`s syndrome).
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