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- W2912046255 abstract "Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic defects, distal limb hypoplasia, facial dysmorphism, and associated major anomalies. It is the most common syndrome associated with congenital diaphragmatic hernia. The pathogenesis of Fryns syndrome is not well understood, but abnormal neural crest cell migration may play a role. Although genetic loci for this disorder are currently under investigation, diagnosis is solely based on clinical criteria. Multiple other chromosome aberrations can produce a similar phenotype; therefore these should be excluded by karyotype and microarray before assigning a definitive diagnosis. While sonographic findings are highly variable, common findings include diaphragmatic hernia, cardiovascular malformations, cystic hygroma, and polyhydramnios. Clinical presentation is largely dependent on the particular anomalies present and organ systems affected. The mortality rate for in utero demise combined with early neonatal death is extremely high; however, a small number of patients have survived into childhood with varying severity of clinical manifestations. Careful consideration to the diagnosis of this syndrome should be paid given its poor prognosis and increased recurrence risk to subsequent pregnancies." @default.
- W2912046255 created "2019-02-21" @default.
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- W2912046255 date "2018-01-01" @default.
- W2912046255 modified "2023-09-23" @default.
- W2912046255 title "Fryns Syndrome" @default.
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- W2912046255 doi "https://doi.org/10.1016/b978-0-323-44548-1.00129-7" @default.
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