Complexities of limb anomalies: the lower extremity in the "prune belly" phenotype.
The so-called "prune belly" syndrome (PBS) consists of megalocystis, cryptorchidism, and marked abdominal distension; in addition to these findings, many other abnormalities are commonly present, rarely including severe anomalies of the leg. We report two such individuals, in whom PBS coexisted with abnormal development of the lower extremity. The first, a still-born male fetus, was delivered at 21 weeks gestation; generalized hypoplasia of both legs was present, more marked distally than proximally, and more severe on the left. The second case, a liveborn male infant, was the second of dichorionic twins, delivered at 33 weeks gestation; this infant died at two hours from respiratory insufficiency due to pulmonary hypoplasia. There was severe hypoplasia of the right leg, with gangrenous necrosis of all tissues distal to the knee. Additional findings included a single right umbilical artery, and a small congenital cystic adenomatoid malformation of the right lung. The findings in these cases are compared to other similar cases in the literature, and possible mechanisms for the etiology and pathogenesis of maldevelopment of the leg in PBS are discussed.
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Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115.
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Bieber
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D000328:Adult; D001344:Autopsy; D005260:Female; D005313:Fetal Death; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007866:Leg / Q000002:abnormalities*; D008297:Male; D011247:Pregnancy; D011535:Prune Belly Syndrome / Q000473:pathology*