Abstract
Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defect. It has been proposed that diagnosis be based on two major and one minor criteria or one major and four minor criteria. Prenatal diagnosis often relies on detection of some of the more easily detectable minor criteria, such as renal agenesis and laryngeal atresia, together with a family history. Cryptophthalmos is the most important diagnostic feature of Fraser syndrome and has been described in 90% of affected patients. Mutations in the FRAS1 and FREM2 genes have been implicated in the etiology of Fraser syndrome, together with an underlying defect of apoptosis. Prognosis is poor and dependent on the predominant anomalies. Termination of pregnancy may be recommended when diagnosis is made early, especially in the setting of renal agenesis or laryngeal atresia.
Original language | English |
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Title of host publication | Obstetric Imaging |
Subtitle of host publication | Fetal Diagnosis and Care, 2nd Edition |
Publisher | Elsevier |
Pages | 547-549.e1 |
ISBN (Electronic) | 9780323445481 |
DOIs | |
State | Published - Jan 1 2017 |
Keywords
- Cryptophthalmos
- Fraser syndrome
- Renal agenesis
- Syndactyly
- Urogenital defects