Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism

Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2–3 toe syndactyly. The diagnosis of SLOS was conf...

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Detalhes bibliográficos
Main Authors: Weaver, David D., Solomon, Benjamin D., Akin-Samson, Kelly, Kelley, Richard I., Muenke, Maximilian
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2815131/
https://ncbi.nlm.nih.gov/pubmed/20104611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30241
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