Hydrops of the gallbladder is an uncommon condition of infants and children. There is acute distension of the gallbladder in the absence of calculi without evidence of inflammation in the early stages of the disease. A case of hydrops of the gallbladder in a 4-year-old male child is presented. The ...

We report a variation of the ligamentum teres hepatis in 45 year old male cadaver. The ligamentum teres hepatis was found between the layers of the rectus sheath. A review of the literature reveals no additional reports of similar anomaly. There was also a variation in the form of the ...

This report describes 2 cases of calcified cavernous transformation of portal vein of unknown etiology. In both cases the revealing symptom was jaundice due to extrinsic compression of the common bile duct by the cavernoma. Only 4 other cases have been previously described in the literature. The cause of the ...

Gallbladder agenesis is an extremely rare disease. Necropsy incidence has been reported to be 0.016%. Failure to locate the gallbladder at the time of a planned cholecystectomy can be very challenging. We report such a case during a laparoscopic cholecystectomy. The indication for surgery in these patients are complaints of ...

A mother and son affected by idiopathic multicentric osteolysis are reported. This condition usually manifests in early childhood and is characterized by progressive destruction of the carpal and tarsal bones, with or without renal anomalies. Unusual facies might be the clinical features of the syndrome. Review of the literature shows ...

Five cases of cranial duplications in calves were morphologically reported. Each calf had a single body with duplicated heads that showed various degrees of fusion. The medial sides of individual heads were asymmetrically supplied by the branches of hemilateral common carotid or lingual artery. No marked differences in the development ...

Agenesis of the gallbladder, with normal bile ducts, is a rare congenital condition occurring in 13 to 65 per 100,000 population, probably from failure of the gallbladder bud to develop or vacuolize in utero. Adults are usually asymptomatic. We report a 40-year-old woman with gallbladder agenesis, found at operation for ...

Multiseptate gallbladder, a rare congenital anomaly, is characterized by the presence of multiple thin septa dividing the gallbladder lumen into various sized chambers, often with a honeycomb appearance. In nearly all cases described previously, the entire gallbladder lumen was traversed by the septa. We describe three children, ages 3, 9, ...

Congenital double pylorus is a rare anomaly in which two pyloric openings connect the antrum of the stomach to the duodenal bulb. We report an unusual case of congenital double pylorus in which one of the channels led to an intraluminal cystic duplication of the duodenal bulb. An embryologic relation ...

Among the neonatal and infantile cases of obstructive jaundice seen at Niigata and Yamagata University Hospitals between 1976 and 1990, extrahepatic bile ducts were visualized in 19 cases by either preoperative endoscopic retrograde cholangiopancreaticography (ERCP) or intraoperative cholangiography. Neonatal hepatitis was diagnosed in 3 of these cases by clear images ...

We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically ...

Agenesis of the gallbladder not associated with biliary atresia is quite rare. We wish to report two patients with gallbladder agenesis in association with duodenal atresia without biliary atresia. Liver biopsy in one patient was notable for an absence of both inflammation and ductal pathology. The unremarkable postoperative course included ...

Recently published reports of 54 subjects with the amniotic band syndrome (ABS) were reviewed, paying particular attention to internal anomalies. Evidence from the internal anomalies suggests that in most cases reviewed, damage occurred in a definable time period, probably prior to 26 days postconception and before the establishment of effective ...

Hindgut duplication including the colon and rectum as well as the genital and urinary organs are extremely rare. Only a few cases are noted in the medical literature. In this report, a newborn with exstrophy of the urinary bladder, double vagina and uterus, double anus, and complete duplication of rectum ...

Tracheal agenesis is a catastrophic congenital anomaly that invariably results in death. Forty-seven cases have been previously reported in the literature. We add five additional cases, including two type 1 cases, two type 2 cases, and one type 3 cases, based on Floyd's classification scheme. We describe the features of ...

A five-year-old boy with a rectal mass mimicking a rectal polyp, which proved to be a cystic duplication of the rectum, is presented. In a child with painless rectal bleeding, a mass palpated during rectal examination is usually diagnosed initially as being a rectal polyp. However, the case presented revealed ...

Defective anomaly of the articular process of the lumbosacral region in three young women is reported. One had a bilateral defect at the lower facet of L1 with defect at L5 right lower and S1 right upper facets. Another had bilateral defects at L5 lower facets, and the third had ...

We report a rare incidence of sacral agenesis occurring in siblings. One of our patients had a low-lying conus, and untethering of the cord in the area of the filum terminale led to improvement in urinary symptoms. The need for aggressive investigation of patients with sacral agenesis and static neurological ...

We report two related patients, presenting duplication 20p, with a characteristic phenotype including normal growth pattern, mental and psychomotor retardation, reduced motor coordination, poor language development, round face and prominent cheeks, vertebral and dental anomalies, and renal malformations. Familial chromosome analysis showed a balanced translocation t(20;21)(p11;q22) in three members of ...

The embryology of the genital tract and urinary system is described, and the hypothesis is advanced that the vagina is an organ embryologically derived from the mesonephric or Wolffian ducts in addition to the Müllerian tubercle. This is based on experimental studies and case reports in the literature and our ...

Anterior vertical fusion of the tracheal cartilages with normal pars membranacea is a rarely described tracheal anomaly. We report four cases of this anomaly, three associated with craniosynostosis syndromes and one with Goldenhar's syndrome. The anomaly was documented at postmortem examination in one case, both endoscopically and at tracheotomy in ...

Malformations of the internal auditory meatus (I.A.M.) are often accompanied by other radiological abnormalities affecting the entire inner ear. In our series of cases we demonstrate solitary deformities of the IAM ranging from the stenosis of the canal (4 cases) to extreme narrowing (2 cases) or complete atresia. Another anomaly ...

A case of retrocaval ureter with recurrent pyelonephritis is presented with discussion of these clinical entities. An excretory urogram and retrograde ureterogram disclosed pronounced hydronephrosis as well as a dilated proximal part and reversed J-shaped appearance of the right ureter. The compressed retrocaval portion of the ureter was resected and ...

Ectopia of the vas deferens into the ureter is a rare occurrence, frequently associated with anorectal anomalies. To date, 20 cases have been reported, accounting for a total of 26 vasoureteral communications, 6 of which are bilateral. Embryologically, ureteral ectopia of the vas deferens may be explained by an underlying ...

Premortem and postmortem radiographs of the chest and abdomen are often available for comparison and provide a basis for making or rejecting an identification. The case reported here exemplifies the way that individualizing features, such as contours of bony elements, skeletal anomalies, and radiodensities and radiolucencies, are used in establishing ...

We report a case of dorsolumbar spine duplication in a female patient. She had several vertebral anomalies, such as fused vertebrae, hemivertebrae and butterfly vertebrae, together with duplication of the spinal column in the lower thoracic and the whole lumbar tract. Clinically, she had no control of the sphincters, but ...

Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have ...

A boy being followed for cardiovascular anomalies was found at age fourteen to have a solitary right kidney which drained to the left side of the bladder. We have reviewed the reports of 33 patients with solitary crossed renal ectopia which describe many associated congenital anomalies especially in the genitourinary ...

Retinoic acid has long been used to induce limb reductions defects in experimental animal studies. No limb malformations, however, have been reported among malformed retinoic acid-exposed human fetuses from case reports or epidemiologic studies. We report a child and a fetus with limb reduction malformations following maternal use of isotretinoin ...

Colonic duplication is a rare congenital abnormality that can be difficult to diagnose, because multisystemic malformations may be present. We report on a hypertensive patient with rather nonspecific symptoms in whom previous diagnoses had failed to detect colonic duplication. In addition to a tubular colonic duplication type I, a hypoplastic ...

Polyorchidism, defined as the presence of more than two histologically proven testes, is a rare entity. A review of the literature has yielded 46 cases of true polyorchidism suitable for consideration in this review, and we add two more, one of them being the 12th case of complete duplication of ...

Vascular compression of the tracheobronchial tree frequently presents early in infancy with significant airway compromise. For this reason, the pediatric otolaryngologist is often consulted early in the assessment of these patients. Three unusual cases of tracheobronchial vascular compression are presented. The diagnosis and management of children with tracheobronchial vascular compression ...

A case of symptomatic opisthorchiasis in a 66-year-old Laotian immigrant is presented. The diagnosis was made by transhepatic cholangiography and by finding the trematode eggs in bile fluid. The characteristic cholangiographic changes of opisthorchiasis are described, including the intraluminal filling defects, the diffuse irregular dilation of the intrahepatic bile ducts, ...

Complete or partial facial duplication is a rare congenital malformation. A spectrum of structural abnormalities varying in degrees of severity has been described in affected individuals. We present discordance for facial duplication between monozygotic twins in which maxillary and mandibular duplication was present in one. The involved twin showed the ...

Histological examination of the gallbladder mucosa was made on a total of 39 patients with anomalous union of the pancreatico-biliary duct system. The most characteristic finding was mucosal hyperplasia of the gallbladder. Measurement of the height of the mucosa revealed that 15 cases (38.5%) showed mucosal hyperplasia composed of ordinary ...

A review of n = 5216 semen analyses performed in our two Clinics from January 1986 to December 1989 allowed to identify n = 35 patients whose sperm had constantly very low motility (less than 5% progressive motile gametes in three subsequent analyses; necrozoospermia cases were excluded from this study). ...

Trigger finger is a relatively common clinical entity, most frequently caused by stenosing tenosynovitis. Several other conditions not related to tenosynovitis also have been described as a cause of triggering, and these have been reviewed. We present a rare anomaly of the fourth lumbrical muscle insertion as a cause of ...

A case of fused pelvic (discoid) kidney drained by a superiorly inserted single ureter is presented. This is the twentieth case of fused pelvic kidney, and the fifth case in which drainage was carried out by a single ureter, to be reported in the English literature. The diagnosis and treatment ...

Alimentary tract duplications are rare, linked in their tubular form with a disturbance of organogenesis at the time of the separation of the notochord during the 4th week of gestation. Its division leads to the formation of a supernumerary esophagus, situated in the posterior mediastinum, associated with vertebral malformations and ...

Agenesis of the right liver lobe is extremely rare, and only 30 cases of agenesis or hypogenesis of the right hepatic lobe have been reported in the literature. Another case of agenesis of the right lobe of liver is presented herein. Diagnosis was established by computed tomography (CT), liver scintigraphy, ...

Perinatal urology is a rapidly expanding field in pediatric urology bringing significant changes in the diagnosis and management of congenital uropathies. Renal duplication was detected by antenatal and perinatal ultrasound in 19 cases (22 duplicated systems). In most cases, no precise diagnosis could be established in utero (4 of 13), ...

We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of ...

We report a case of a blind-ending branch of a duplicated ureter associated with obstruction and urolithiasis of the contra-lateral kidney. To our knowledge, this is the first report of such association. Review of the literature indicated that the former part of the association has been reported previously, although infrequently.

A case of a rare first branchial arch anomaly with severe hypoplasia of the mandible and fusion between the mandible and adjacent bones is presented. The patient also had intracranial, cardiac, and acral deformities. The craniofacial malformations may reflect incomplete separation of the first branchial arch into its maxillary and ...

A case report of an accessory metatarsal located between the first and second metatarsals is presented. This rudimentary accessory ray caused a splay foot deformity that made it difficult for the patient to walk comfortably in shoes. In reviewing the literature, there has been very little reported on the complete ...

Tracheal agenesis is a rare congenital anomaly. We report a case and review the cases previously reported. Clinical features that might indicate tracheal agenesis include antenatal polyhydramnios, severe respiratory distress, absence of an audible cry, failure to advance an endotracheal tube beyond the larynx, a palpable distal trachea, clinical improvement ...

A case of agenesis of the dorsal pancreas associated with diabetes mellitus and dilated biliary trees was reported. Preoperative diagnosis was made by endoscopic retrograde cholangiopancreatography and computed tomography. Laparotomy revealed a normal head of the pancreas but complete agenesis of the body and tail. Biopsy specimens removed from the ...

Ectopic location of the vas deferens is a rare congenital abnormality that has a spectrum of presentations. Such cases have been associated with anorectal anomalies. Knowledge of distal Wolffian duct embryology may help to explain the developmental steps involved in these anomalies, as well as provide theories for the variations ...

Five cases are described of a condition in which the maxilla is fused to the mandible at birth, together with details of associated anomalies. A review of the literature provides a further nine single case reports that have appeared previously. An hypothesis of the possible embryological derivation of this condition ...

An unusual case is reported of a fifteen-year-old adolescent boy, who was born with two independent phalli. Both organs featured separate, completely developed urethras, including an extra urethral remnant in the right penis. A third hypospadic perineal urethral duct equipped with a mechanical sphincter also could be identified histologically. Bilateral ...