An association of prune belly anomaly with trisomy 21

We report on two patients with prune belly anomaly (PBA) and trisomy 21 documented by clinical examination and cytogenetic investigation. The first infant was diagnosed at birth. A distended bladder was detected prenatally by ultrasound in the second patient, and chromosome studies were performed on cells obtained from fetal "bladdercentesis." We discuss the importance of cytogenetic studies in cases where fatal surgery is a consideration.     

A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly and prune belly syndrome

We report here two siblings diagnosed as having Beckwith-Wiedemann syndrome. In addition to Beckwith-Wiedemann syndrome, one of the siblings was also diagnosed with prune belly syndrome. The other sibling suffered from obstructive uropathy and unilateral cryptorchidism, which are also seen in prune belly syndrome. We believe that these two cases point to a potential association between Beckwith-Wiedemann syndrome, prune belly syndrome, and urinary tract anomaly.     

Acardiac amorphous twin with prune belly sequence in the co-twin

We describe a twin with acardia acephalus or "Twin Reversed Arterial Perfusion Sequence" and prune belly sequence in the co-twin. In a former quite similar case a prune belly appearance of the co-twin of an acardiac fetus was found to be secondary to the ascites caused by cardiac failure. In the present case, we are dealing with the prune belly sequence as a separate condition, given the fact there were no signs of ascites or cardiac failure. We also found associated anomalies: agenesis of the left ureter and kidney, dysplastic right kidney and anal atresia. Urinary tract obstruction has never been described in the co-twin of an acardiac amorphous fetus.     

The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.

The genetic, clinical, and necropsy findings of 2 brothers with the prune belly anomaly are presented and the literature reviewed. The combined data emphasise the clinical and genetic heterogeneity of the disorder and show that in at least some instances a heritable component may be the primary insult. The most likely heritable explanation involves a two-step autosomal dominant mutation with sex-limited expression that partially mimics X-linkage.     

Intrauterine closure of the ductus arteriosus in association with prune belly syndrome

Findings from the autopsy of a preterm neonate with in utero anatomic closure of the ductus arteriosus in association with prune belly syndrome are presented. Marked bladder distention, a major feature of prune belly syndrome, has secondary mechanical effects on fetal thoracic organs, and the fetus might have been exposed to chronic intrauterine stress. This could have affected the prenatal closure of the ductus arteriosus, although no definitive conclusion can be made.     

Prenatal diagnosis of persistent common cloaca with prune belly and anencephaly in the second trimester

We report the prenatal diagnosis of a fetus with persistent cloaca, prune belly sequence, and anencephaly. This fetus resembles the recently reported patient with prune belly and anencephaly. A syndromic diagnosis was not possible in either case, but the likelihood of a chance association also has to be regarded as low.     

Craniofacial,limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3

Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly of toes 2–5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity. © 1993 Wiley-Liss, Inc.     

Obstructive lesions of the lower urinary tract in the prune belly syndrome

The prune belly syndrome is a well-recognized entity consisting of deficient abdominal musculature, cryptorchid testes, and urinary tract abnormalities most consistent with an obstructive phenomenon. However, an obstructive lesion has not been consistently identified in previously reported cases. Retrospective review of the autopsy files of The Johns Hopkins Hospital, Baltimore, identified 18 cases of prune belly syndrome occurring since 1945. In 13 cases, obstructive lesions in the lower urinary tract had been described grossly. A single case, in which the lower urinary tract had been preserved intact and subsequently serially sectioned as 8-micron sections taken at every 120 micron, demonstrated an obstruction consisting of two overriding urethral lumens connected only by a narrow channel. Reconstruction of the sections suggested that this represented a "kink" in a short segment of the prostatic urethra just above the membranous urethra, leading to the obstructive changes of bladder hypertrophy and dilatation, hydroureter, hydronephrosis, and renal dysplasia seen higher in the urinary tract. The results suggest that examination of the lower urinary tract in cases of prune belly syndrome by serial histologic sectioning of the intact unopened prostatic and penile urethra may be required to demonstrate the presence or absence of an obstructive lesion.     

Prune belly syndrome in an anencephalic male

We describe a postmature anencephalic infant with atrophy of the abdominal musculature (prune belly syndrome). Other associations of these conditions are noted.     

Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention

We report on an infant with the prune belly syndrome who was unusual in that the typical manifestations of the disorder were accompanied by an anterior abdominal wall defect. We speculate that this defect may have occurred as a result of splitting of the abdominal wall secondary to massive bladder dilatation and stretching of the abdominal muscles. An alternative explanation is that the defect may have been the result of secondary pressure necrosis from stretching forces or from contact with another structure, such as the cervix. This case lends further support to the hypothesis that bladder distention with overdistention of the abdomen may be the primary event leading to the findings observed in the prune belly syndrome.     

Prune belly syndrome: Observations supporting the hypothesis of abdominal overdistention

We report on an infant with the prune belly syndrome who was unusual in that the typical manifestations of the disorder were accompanied by an anterior abdominal wall defect. We speculate that this defect may have occurred as a result of splitting of the abdominal wall secondary to massive bladder dilatation and stretching of the abdominal muscles. An alternative explanation is that the defect may have been the result of secondary pressure necrosis from stretching forces or from contact with another structure, such as the cervix. This case lends further support to the hypothesis that bladder distention with overdistention of the abdomen may be the primary event leading to the findings observed in the prune belly syndrome.     

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome.     

Prenatal diagnosis of the prune belly syndrome

A male fetus with prune belly syndrome was diagnosed by ultrasound at 30 weeks of gestation. The diagnosis was confirmed after birth.     

Prune belly syndrome and female pseudohermaphroditism

The "prune belly" syndrome (PBS) combines malformation of the deferent urinary tract with cryptorchism and hypoplasia or aplasia of the abdominal musculature. Recent investigations have ascertained the role of urethral atresia or temporary urethral stenosis in the pathogenesis of PBS. The present case is classified as PBS combined with female pseudohermaphroditism and urethral atresia in a Potter syndrome. Of paradigmatic significance for the understanding of PBS pathogenesis, the case illustrates the almost exclusive occurrence of the syndrome in males, explained by the complex evolution of the phallic urethra. Hypoplasia of abdominal muscles is seen as a sequel to the extreme occupation of intraabdominal space. An alternative concept, assuming general defects in mesenchymal development that provoke independent, isolated malformations eventually subsumed under the term prune belly syndrome, is discussed in this context.     

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome

A male fetus with decreased calvarial mineralization and suspected omphalocele was identified prenatally in a woman with oligohydramnios and Melnick-Needles syndrome (MNS). At autopsy, exophthalmos, prune belly sequence with urethal atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut were identified. Mandibular hypoplasia and delicate, bowed, irregular, long bones and ribs with widening and deep cupping of the metaphyses were found radiographically. In addition, we review 3 previously reported cases of males with similar, lethal malformations, all born to mothers with MNS. It is our conclusion that these anomalies characterize the male MNS phenotype. A review of all reported viable individuals with MNS identified 2 distinct entities: a mild form found only in females, compatible with normal life expectancy in most cases and inherited in an X-linked dominant male lethal or sex limited autosomal dominant pattern, and a different, more severe disorder, termed precocious osteodysplasty, found in both males and females and inherited as an autosomal recessive trait.     

Tricho-Rhino-Phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion

A patient with the diagnosis of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome. © 1992 Wiley-Liss, Inc.     

Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome

We report a case of severe Beckwith-Wiedemann syndrome (BWS) in a fetus at 16 weeks of gestation. This presentation, incompatible with life, included a giant omphalocele and absence of abdominal wall musculature with extremely dilated bladder, as in the "prune belly" sequence. Adrenal cytomegaly pointed to BWS. Molecular analysis confirmed the diagnosis of BWS and showed an isolated demethylation of the KCNQ1OT1 gene. This report demonstrates that lethal fetal abdominal wall defects associated with adrenal cytomegaly are linked to epigenetic change of the 11p15 imprinted region.     

Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis

The Ebstein anomaly is a rare congenital heart disease involving the position and structure of the tricuspid valve. Although most cases are sporadic, familial occurrence has been documented. We report on 2 sisters, born to consanguineous parents, who were diagnosed prenatally with severe Ebstein anomaly.     

Ebstein anomaly: report of a familial occurrence and prenatal diagnosis.

The Ebstein anomaly is a rare congenital heart disease involving the position and structure of the tricuspid valve. Although most cases are sporadic, familial occurrence has been documented. We report on 2 sisters, born to consanguineous parents, who were diagnosed prenatally with severe Ebstein anomaly.     

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia

Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.