Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome).
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.


METHODS
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.
Konstantinidou
Anastasia
A
First Department of Pathology, Medical School, National Kapodistrian University, Athens, Greece. ankon@med.uoa.gr
Sifakis
Stavros
S
Koukoura
Ourania
O
Mantas
Nikitas
N
Agrogiannis
George
G
Patsouris
Efstratios
E
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D000328:Adult; D018376:Cardiovascular Abnormalities / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D010179:Pancreas / Q000002:abnormalities*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal