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Robin D. Clark

, and Cynthia J. Curry

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date: 22 November 2019

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of heterotaxy and disorders of situs, including polysplenia and asplenia. The relationship between heterotaxy and dysfunction of non-motile primary cilia is explained. The discussion on the differential diagnosis of heterotaxy summarizes its common causes, including teratogenic agents, chromosome anomalies (maternal diabetes mellitus), and Mendelian disorders in which heterotaxy occurs with various patterns (TAPVR) and in association with malformations in other organ systems (Agnathia-Otocephaly). The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with situs ambiguous and asplenia who had unexpected respiratory distress after surgery due to primary ciliary dyskinesia.

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