Birth defects research. Part A, Clinical and molecular teratology · 2008
Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome).
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Konstantinidou Anastasia, Sifakis Stavros, Koukoura Ourania, Mantas Nikitas, Agrogiannis George, Patsouris Efstratios
Аннотация
BACKGROUND: Asplenia or polysplenia and complex cardiovascular defects, in association with disturbed body symmetry and malposition of internal organs, constitute the main corpus of malformations in the heterogeneous group of heterotaxy disorders. In affected pregnancies, prenatal diagnosis is possible by ultrasonography, while prognosis and counseling largely depend upon the severity of the cardiac defect.
CASE: We present a 25 week gestation fetus with typical findings of asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome) and aplasia of the pancreas.
CONCLUSIONS: Pancreatic aplasia emerges as an additional phenotypic feature in Ivemark syndrome and raises the possibility of total pancreatic insufficiency of the affected neonate as an additional, although rare, clinical consideration.
CASE: We present a 25 week gestation fetus with typical findings of asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome) and aplasia of the pancreas.
CONCLUSIONS: Pancreatic aplasia emerges as an additional phenotypic feature in Ivemark syndrome and raises the possibility of total pancreatic insufficiency of the affected neonate as an additional, although rare, clinical consideration.