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PubMed1994

Comparative epidemiology of selected midline congenital abnormalities.

We present comparative epidemiologic characteristics of five congenital abnormalities that have been suggested to result from midline abnormal developmental disturbances: esophageal atresia with or without tracheoesophageal fistula (EA/TEF), imperforate anus with or without fistula (IA/F), omphalocele (OM), bladder exstrophy (BE), and diaphragmatic hernia (DH). The purpose was to assess the extent of epidemiologic similarities among these five defects. Data were collected as part of a population-based case-control study of infants with these defects born to mothers residing in Maryland, Washington, D.C., or Northern Virginia from 1980 through 1987. The estimated annual birth prevalences (per 10,000 live births) and 95% confidence intervals (CI) of these five defects were 0.40 (0.26-0.61) for BE, 1.34 (1.08-1.67) for OM, 1.59 (1.29-1.95) for DH, 2.11 (1.76-2.53) for EA/TEF, and 2.97 (2.55-3.46) for IA/F. The birth prevalence of IA/F and DH increased between 1980 and 1987. In contrast to the other four defects, DH showed a significant male preponderance (rate ratio 1.57, 95% CI 1.03-2.47), a significant white excess (rate ratio white:other, 1.56, 95% CI 1.00-2.48), and a lower proportion of multiple associated defects (30% vs. 46-61%). We concluded from this study that the descriptive epidemiology of diaphragmatic hernia is different from that of the other four defects. This finding may imply differences in etiologic and pathogenetic mechanisms underlying DH.

Abnormalities, Multiple↗

PubMed1995

Prenatal ultrasonographic diagnosis of congenital megalourethra.

Congenital megalourethra is a rare genital anomaly characterized by dilatation of the penile urethra without evidence of distal obstruction. Reports of the prenatal diagnosis of this condition in the literature are limited. We present a case of congenital megalourethra with obstructive uropathy from the posterior urethra diagnosed prenatally at 18 weeks of gestation. 'Prune-belly'-like features, colonic malrotation, and imperforate anus were also found on autopsy.

Adult↗

PubMed1993

A case of a closed partial cloacal septation defect with a patent urachus.

A boy with a closed partial cloacal septation defect with a patent urachus is reported. He had an intact abdominal wall, a patent urachus, a colovesical fistula, intact genitalia and urethra, imperforate anus, and a lipomyelocystocoele. Patients with similar constellation of findings have been reported as cloacal exstrophy variants. What distinguishes this case from the other reported variants is the intact abdominal wall with the patent urachus, the small and normally formed phallus and urethra, and the presence of a lipomyelocystocoele. We discuss the possible embryologic mechanism responsible for this boy's findings and possible relationship with the cloacal exstrophy spectrum. We also discuss new terminology for the epispadias-exstrophy spectrum. Furthermore this case reminds us that there is considerable variability within the epispadias-exstrophy spectrum.

Abnormalities, Multiple↗

PubMed2006

Echogenic foci in the dilated fetal colon may be associated with the presence of a rectourinary fistula.

Intraintestinal meconium calcification in the fetus and newborn is a rare finding, occurring in patients with intestinal obstruction. The intraluminal location of the enterolithiasis enables differentiation from calcifications that are secondary to bowel perforation and meconium peritonitis. We report on a term male neonate with VACTERL (vertebral defects, imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal anomalies, limb anomalies) association and rectourethral fistula, in whom enterolithiasis was documented by prenatal ultrasound imaging at 21 weeks' gestation. A review of the literature and a summary of all previously described cases of neonates with intraluminal meconium calcifications are provided. Prenatal ultrasonographic detection of enterolithiasis in fetuses with anal atresia may indicate the presence of an enterourinary fistula.

Adult↗

PubMed2007

OEIS complex: prenatal ultrasound and autopsy findings.

OBJECTIVE: To describe prenatal ultrasound and autopsy findings in fetuses with OEIS (omphalocele, bladder exstrophy, imperforate anus, spina bifida) complex. METHODS: This was a retrospective study of the nine cases with OEIS complex diagnosed at our center using detailed fetal ultrasound during the last 10 years. We summarized the fetal ultrasound findings that led to the diagnosis and compared them with the autopsy results. RESULTS: All affected fetuses were diagnosed using detailed fetal ultrasound after 16 weeks' gestation. The main prenatal findings were omphalocele, skin-covered lumbosacral neural tube defect, non-visualized bladder and limb defects. Prenatal sonography failed to detect the abnormal genitalia, bladder exstrophy and anal atresia. All cases had abnormalities in a 'diaper distribution', which helped in making the prenatal diagnosis. Eight of the nine couples chose to terminate the pregnancies following multidisciplinary counseling. The pregnancy that was continued was a case with dizygotic twins discordant for OEIS, and the affected fetus died in utero. CONCLUSIONS: The combination of the following ultrasound findings: ventral wall defect, spinal defect and a non-visualized bladder with or without limb defects, are characteristic of OEIS complex. Diagnosis can be made with confidence as early as 16 weeks' gestation, although earlier diagnosis may be possible.

Abnormalities, Multiple↗

PubMed1975

A male infant with monosomy 21.

A male infant with total monosomy 21 identified by Q-, G- and R-banding is described. His main symptoms are hypertonia, micrognathia, microphthalmus, imperforate anus, ambiguous external genitalia, floating and malopposed thumbs, overlying fingers, right clubfoot and growth retardation. Both parents are phenotypically as well as karotypically normal.

Abnormalities, Multiple↗

PubMed1988

Good outcome in prune-belly syndrome despite associated severe anomalies.

A boy aged 4.5 years with prune-belly syndrome and associated urethral stenosis, oligohydramnios, imperforate anus and vesicosigmoid fistula is described. In contrast to the anticipated poor prognosis, vesicostomy and divided transverse colostomy performed after birth followed by prophylaxis of infection and bicarbonate supplementation have resulted in a good outcome. The vesicosigmoid fistula might have served in utero as a "natural diversion" protecting from pressure-induced renal damage. It is suggested that the main determinant of prognosis in PBS is the presence and degree of kidney dysplasia at birth as reflected by the neonatal renal function after performance of an indicated urinary diversion procedure rather than the presence of severe associated anomalies.

Anus, Imperforate↗

PubMed1976

Motility of the large intestine of piebald-lethal mice.

In normal siblings of piebald mice, artificial fecal pellets were propelled by peristaltic activity through the large intestine in vitro and were expelled at the anal end. Peristalsis was blocked by lidocaine. Artificial fecal pellets were propelled in the dilated region of the megacolon, but were not propelled in the terminal hypoganglionic segment of the intestine of piebald mice. Retropulsion of artificial fecal pellets occurred in vitro in normal bowel obstructed by a ligature, in the bowel of piebald mice with a narrowed terminal segment, and in the intestine of mice with imperforate anus. The results indicate that the distended portion of the colon of piebald mice is capable of coordinated peristalsis and that accumulation of feces and megacolon are secondary to the terminal obstruction that results from absence of coordinated propulsive activity in the hypoganglionic terminal segment. Reverse peristalsis may be a general response to a distal obstruction.

Animals↗

PubMed1996

Additional congenital defects in anorectal malformations.

UNLABELLED: From 1974 until 1995 a total of 264 (141 male, 123 female) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before. CONCLUSION: Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.

Abnormalities, Multiple↗

PubMed1990

Townes-Brocks syndrome.

A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk.

Anus, Imperforate↗

PubMed1989

Tracheal agenesis with bronchoesophageal fistulas--a case report.

Although tracheal agenesis is presently considered to be a rare and fatal anomaly, an increasing number of institutions have been reporting such cases. Reported herein, is a clinical and necropsy report of a premature infant whose tracheal agenesis was associated with broncho-esophageal fistulas and an imperforate anus. Accidental esophageal intubation enabled a perineal anoplasty to be performed under general anesthesia and allowed him to survive for 14 days.

Anus, Imperforate↗

PubMed1989

Transverse fusion of the renal pelvis and single ureter.

We present a case of a rare renal anomaly in which the 2 kidneys (separate or fused across the midline) are drained by a common renal pelvis and ureter. Previously reported cases have been reviewed and are classified in 3 groups according to their anatomical features. The lesion is associated with some frequency with imperforate anus, sacral and other vertebral defects, neurogenic bladder, vesicoureteral reflux, upper tract dilatation, and urinary tract infections.

Abnormalities, Multiple↗

PubMed1979

Rectourethral fistula on the urethrogram.

Radiologic demonstration of a rectourethral fistula is of importance in the evaluation of the male neonate with imperforate anus. After pull-through operation a remnant of the fistula may remain as a small unimportant sinus tract or may cause problems.

Adult↗

PubMed2003

Congenital diplopodia.

Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus.

Anus, Imperforate↗

PubMed1997

A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis.

We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung.

Anus, Imperforate↗

PubMed1997

Antley-Bixler syndrome. Description of two new cases and a review of the literature.

Antley-Bixler syndrome was first described in 1975, and to date 20 cases have been reported. In addition to brachycephaly, the syndrome is associated with midface hypoplasia, often with choanal stenosis or atresia, bilateral radiohumeral synostosis, multiple joint contractures, femoral bowing and long bone fractures, "pear-shaped" nose, dysplastic ears and, occasionally, urogenital or cardiac defects. Survival is closely linked to upper airway obstruction. This, in addition to craniosynostosis, also affects mental prognosis. The cluster of malformations and their severity are variable, and while numerous children have died early from respiratory distress, one third of them are alive and have had quite satisfactory development. With early and effective prevention of respiratory complications and early treatment of craniosynostosis, the overall prognosis can be favorable. The mode of inheritance is probably autosomal recessive, and midtrimester prenatal diagnosis is feasible. Genetic counseling depends on accurate prognostic and therapeutic data. We describe two new cases, a 4-year-old boy with unilateral coronal synostosis and radiohumeral synostosis on the same side and an 18-month-old girl with brachycephaly and imperforate anus.

Abnormalities, Multiple↗

PubMed2005

Posterior urethral diverticulum after laparoscopic-assisted repair of high-type anorectal malformation in a male patient: surgical treatment and prevention.

Currently, laparoscopic-assisted colon pull-through (LACPT) is the treatment of choice for male patients with high-type imperforate anus and rectourethral fistula. Since laparoscopy was introduced for treating this condition, reports concerning post-LACPT complications are rare. Here we discuss the case of a boy, now 3.5 years old, born at 37 weeks' gestation weighing 2,300 g, who was diagnosed with rectobulbar urethral fistula (RUF) at birth. LACPT was performed when the boy was 11 months old and weighed 7.2 kg. No intraoperative complications occurred, and the initial post-LACPT course was uneventful. When he was 2 years old, he developed dysuria requiring urethral catheterization. Diagnostic radiology confirmed a large cystic mass behind the bladder, suggestive of a posterior urethral diverticulum (PUD). Histopathology of the excised mucosa of the cyst showed colonic mucosa, confirming that the cyst was indeed an enlarged residual RUF. We discuss our treatment and our approach to prevention.

Anus, Imperforate↗

PubMed2005

A neonate with anorectal malformation with rare limb defects report of a case.

A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also had imperforate anus and ventricular septal defect. These limb defects were-meromelia of the right upper limb (due to transverse deficiency of right humerus and absence of all the bony elements distally), and a short right lower limb due to co-existence of proximal femoral hypoplasia and fibular hemimelia. We could not trace the co-existence of these rare skeletal defects in any case with VACTERL association in the existing English literature, as was observed by us. The simultaneous occurrence of the defects involving distant anatomic sites supports the hypothesis of 'axial mesodermal dysplasia' in our patient, rather than 'caudal regression syndrome', as is popularly held in patients with anorectal malformation (ARM). Further, it points to occurrence of an early embryonic insult, probably taking place at blastogenic stage, when the developing embryo can be considered a polytopic development field. However, in absence of antenatal history suggestive of exposure to a known teratogen and a chromosomal analysis, it appears that the spectrum of anomalies in this neonate might have resulted secondary to early amniotic leak and temporary oligohydramnios.

Abnormalities, Multiple↗