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Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature

✍ Scribed by Walfisch, Asnat; Mills, Kelsey E.; Chodirker, Bernard N.; Berger, Howard


Book ID
113039852
Publisher
Springer
Year
2012
Tongue
English
Weight
150 KB
Volume
286
Category
Article
ISSN
0003-9128

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PRENATAL DIAGNOSIS OF BLACKFAN–DIAMOND S
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A case of prenatally diagnosed autosomal dominant congenital hypoplastic anaemia (Blackfan-Diamond syndrome or Aase congenital anaemia) causing hydrops fetalis is presented. Recommendations for the prenatal management of Blackfan-Diamond syndrome (BDS) include prepregnancy counselling for parents wi