Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect
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DOI: 10.1002/bdr2.2421
Abstract: Agnathia‐otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion, microstomia with oroglossal hypoplasia or aglossia. It has a very bad prognosis and can arise alone or… read more here.
Keywords: prenatally case; otocephaly diagnosed; study rare; case study ... See more keywords
Outcome of intrahepatic portosystemic shunt diagnosed prenatally
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DOI: 10.1007/s00431-017-3013-x
Abstract: AbstractWe analyzed the characteristics of the population with congenital portosystemic shunt diagnosed during the antenatal period and the organization of their perinatal care. This multicentric retrospective study included all the patients with a prenatal diagnosis… read more here.
Keywords: intrahepatic portosystemic; shunt diagnosed; portosystemic shunt; outcome intrahepatic ... See more keywords
Neonatal Marfan syndrome diagnosed prenatally.
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DOI: 10.5603/gp.a2017.0009
Abstract: Neonatal Marfan syndrome (nMFS) is far less common than the classic type and is considered to be a separate clinical entity, with its unique symptoms, specific mutations in the FBN1 gene, and extremely poor prognosis.… read more here.
Keywords: diagnosed prenatally; marfan syndrome; fbn1 gene; neonatal marfan ... See more keywords