[Potter sequence in a neonate with bilateral renal dysplasia with genetic aspects].
The authors describe a neonate with Potter sequence due to bilateral renal dysplasia and discuss its genetic implications. Although this congenital anomaly of the kidneys may occur sporadically, it is now accepted that this condition has an autosomal dominant inheritance pattern with a penetrance of 50-90% and variable expression. Potter sequence is not compatible with extrauterine life; therefore, in case of maternal oligohydramnios, ultrasound should be performed in the second trimester in order to make a prenatal diagnosis, as well as to permit genetic counseling. As Potter sequence is frequently associated with clinically silent anomalies of the kidneys, ultrasound examination of the kidneys and urinary tract should also be performed in all family members.
Dyrek
I
I
Oddziału Noworodków Szpitala Powiatowego w Lublińcu.
Gajda
B
B
Osuch-Jaczewska
R
R
Gruszka
L
L
Mocny
J
J
Gaida
H
H
Trzesiok
K
K
Pogorzelec
B
B
Pilch-Kucia
H
H
Mańka
B
B
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities*; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome