Familial recurrence of urethral stenosis/atresia.
BACKGROUND
We report the familial recurrence of urethral stenosis/atresia in two sibling fetuses with bladder outlet obstruction, severe oligohydramnios, and pulmonary hypoplasia. Urethral obstruction in the fetus, when severe, results in a dilated urinary bladder (megacystis) and associated urinary anomalies (hydroureter, hydronephrosis, renal dysplasia). Distention of the fetal abdomen, the result of megacystis or urinary ascites, leads to stretching and eventually hypoplasia or even absence of abdominal muscles.


METHODS
This constellation of findings, known by a variety of terms including "prune belly" syndrome, is associated with a variety of urethral changes, including posterior urethral valves and urethral stenosis/atresia. One fetus manifested unilateral postaxial polydactyly of the left hand.


CONCLUSIONS
A microdeletion of 6p25.3, identified in mother and one fetus, is not associated with a gene known to be involved in urethral development and therefore of unknown significance.
Siebert
Joseph R
JR
Department of Laboratories, Seattle Children's Hospital, Seattle, Washington, USA. joseph.siebert@seattlechildrens.org
Walker
Martin P R
MP
D000328:Adult; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D017353:Gene Deletion; D005865:Gestational Age; D006801:Humans; D008297:Male; D016104:Oligohydramnios / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D011535:Prune Belly Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D016216:Ultrasonography, Prenatal; D014521:Urethra / Q000002:abnormalities / Q000000981:diagnostic imaging; D014525:Urethral Stricture / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D001743:Urinary Bladder / Q000002:abnormalities / Q000000981:diagnostic imaging; D001748:Urinary Bladder Neck Obstruction / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D014551:Urinary Tract / Q000002:abnormalities / Q000000981:diagnostic imaging