Using two new cases and 70 case reports in the literature as a starting point, the authors focus on the Weismann-Netter-Stuhl syndrome. Weismann-Netter and Stuhl reported the first cases of tibioperoneal diaphyseal toxopachyosteosis in 1954. This syndrome is defined as an anomaly of the diaphyseal part of both tibiae and ...

This is to our knowledge the first case in the world literature of a liveborn baby with a tubular colonic duplication, agenesis of the urinary bladder, urethral atresia, and a single pelvic kidney with its ureter opening directly onto the skin in the region of the natal cleft. A brief ...

Saint's triade of hiatus hernia, colonic diverticula, and cholelithiasis presenting with volvulus of the gallbladder is a unique occurrence. Possible etiology of volvulus of the gallbladder involves kyphosis, viceroptosis, cholelithiasis, and in this case adhesive bands. Laparoscopic decompression of the gallbladder, division of the adhesive bands, detorsion of the volvulus, ...

OBJECTIVE: To evaluate the incidence, associated anomalies, and the type of congenital urinary tract anomaly and to know the cause of congenital hydronephrosis. METHODS: In 4.5 years, 5,442 fetuses had ultrasonography and 48 cases of fetal urinary tract anomaly were detected. Ultrasonogram was done after delivery with further examination as ...

We discovered a unique case of complete cartilaginous duplication of the rib cage in a cadaver, never previously described in the literature. A retrospective review of the patient's medical records revealed an antecedent history of progressive tobacco-related emphysema leading to death from end stage respiratory failure. Prior imaging studies consisting ...

We report a case of type II ureteral triplication associated with ectopic ureter. The ureter, draining the upper renal segment, entered the vagina, and the other two ureters, draining the middle and lower renal segments, had joined and entered the bladder. The anatomic findings are compatible with those predicted by ...

Cloacal duplication including the rectum, anus, and genitourinary organs is one of supernumerary development. Only two cases have been reported in the literature. A case with cloacal duplication is presented. The patient was an 8-year-old girl who has had fecal incontinence since birth. Successful surgical treatment was achieved by removing ...

Five new cases of a rare congenital anomaly known as the "pelvic digit", were each discovered incidentally on a radiographic examination of the pelvis. The features are described, using tomograms in some cases to show the most important and typical radiographic signs of this anomaly. We review the cases previously ...

Two cases are presented in which anomalies of the inferior vena cava were associated with horseshoe kidneys. Radiological demonstration of such combined variation is rare, only one case of duplicated inferior vena cava with horseshoe kidney having been found in the literature. The embryological basis for these anomalies is reviewed. ...

We present an 18 year old woman suffering from cavernous transformation of the portal vein, hypersplenism and bleeding esophageal varices. Color flow Doppler sonography showed gallbladder wall varices. A review of the literature, revealed 76 cases of gallbladder varices. Mostly, these were associated with portal vein occlusion and rarely with ...

Three unique cases of urethral duplication, often referred to as congenital posterior urethral perineal fistulae, are presented. Presenting signs and symptoms, evaluation, and treatment are discussed, and the literature is reviewed. Although labeled as a fistula in the literature, this entity most likely represents a distinct type of urethral duplication. ...

Duplications of the alimentary tract are rare congenital anomalies that may occur at any level from mouth to anus. While the oesophagus and the ileum are the most common sites, duplications of the colon are rare. Two cases of ileocolic intussusceptions in 8-month-old girl and 6-month-old boy who were admitted ...

A case of split hand anomaly detected by transvaginal sonography at 18 weeks of gestation is reported in which the diagnosis was difficult to establish. Different aspects of this pathology are discussed. Sonographic diagnosis of hand anomalies may be difficult to establish, even with experience. The ideal timing for the ...

The authors report the case of lower cervical/upper thoracic esophageal duplication associated with an obstructing esophageal web. This presented in the newborn period as an esophageal atresia. Initial resection of the web and closure of the fistula were performed. The duplication was excised electively at 2 months of age. Persistent ...

We report on a 25 year old woman with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association). Growth retardation and facial asymmetry were also present. A review of published reports allows MURCS association to be distinguished from related associations, sequences, and syndromes. ...

Although congenital biliary abnormalities are common, preduodenal portal vein is very rare, not to mention preduodenal common bile duct (CBD) which has not been described before in the literature. A case with both anomalies complicated by biliary tract stones is reported. A brief review of embryonic development is also presented ...

Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. ...

Duplications of the digestive tract are very unusual entities that can be located in any other part of the Gastrointestinal tract. However the most frequent location is the jejunoileal one. We report the case of a giant chylous intestinal cyst duplication, located in the ileum, diagnosed in a 41 year-old ...

Gains of a single chromosome are frequent cytogenic findings in human cancer, but no molecular rearrangement has been consistently associated with any trisomy. In acute myeloid leukemia (AML), trisomy 11 (+11) occurring as a sole abnormality is the third most common trisomy. We have shown that the ALL1 gene, located ...

Four cases of complete (three) and partial (one) agenesis were evaluated ultrasonographically. The frontal lobe/biparietal diameter ratio were evaluated in 113 normal fetuses and compared with those ratios in fetuses with corpus callosum agenesis. In the presence of the classic ultrasonographic features of agenesis of the corpus callosum, frontal lobe ...

The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or ...

A 30 years old man presented with symptoms of Bilharziasis. Ultrasound showed gallstones in the gallbladder which was removed laproscopically, heavy bilharzial infection was detected in the gallbladder tissue. The first case in Saudi Arabia is reported. A review of the world literatures since 1966 about the subject is presented ...

Spasm of the near reflex has been characterized as the variable appearance of pseudomyopia, convergent strabismus and miosis. These characteristics may appear together or separately. In addition, abnormalities of accommodation may appear not only as pseudomyopia, but may also be manifest in cases with significant hypermetropia in which the patient ...

Atrioventricular valve duplication is a rare congenital cardiac anomaly. The anomaly is usually recognized as an incidental finding at autopsy, open heart surgery, or two-dimensional echocardiography. In this article we present the transthoracic and transesophageal presentation of a case of mitral and a case of tricuspid valve duplication. The hemodynamic ...

Among other anomalies of the menisci, a hypoplastic medial meniscus is extremely rare, with only four cases being described in the English literature. We were unable to find a description of this anomaly in the lateral knee compartment. A case report of a young patient with an arthroscopic diagnosis of ...

Gastric duplications are unusual congenital anomalies that often require surgical treatment. Pyloric duplications are particularly rare; few are reported in the English literature. This article reviews the literature on pyloric duplications and describes a pyloric duplication associated with hypertrophic pyloric stenosis in a 5-week-old child and a duplication that recurred ...

Although complete duplication of the bladder and urethra (CBDU) has been considered to be an isolated anomaly, the present report involves an infant who had CBDU and associated anomalies of the gastrointestinal and central nervous systems. Clarification of the upper-tract renal anatomy is mandatory in planning a staged approach to ...

Intestinal duplications are rare, occurring in 1 in 4000 births. Even rarer are tubular hindgut duplications, with less than 75 cases reported in the literature to date. We report an uncommon case of an enterovesical fistula caused by a duplication of the sigmoid colon. This is the first reported case ...

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, ...

True duplication of the cervical esophagus is rare. An 18-month-old girl presented with a large asymptomatic neck mass, which was found to be an intramural duplication of the esophagus. The evaluation and treatment of this patient is presented as well as a review of the six previously reported cases.

An anomaly of the extrahepatic biliary system is reported in which the common hepatic duct was found to enter the gallbladder, whereas the cystic duct drained the whole biliary system into the duodenum. Review of the literature revealed only eight previously reported similar cases. To ascertain such anatomy, a choledochal ...

We report 7 cases in which grafts of ureter were used as tube and patch segments in urethral reconstruction and formation of a continent catheterizable stoma. The ureteral grafts survived without long-term stricture in all cases. Meticulous preparation of the graft and recipient bed is required for success, as previously ...

Torsion of the gallbladder is a rare entity. Approximately 300 cases have been reported since it was first described in 1898 by Wendel (Ann. Surg. 1898; 27:199). The condition occurs most often in the elderly. Although the etiology is unknown, a constant finding is the presence of the gallbladder on ...

A case is presented of an ectopic ureter opening into the seminal vesicle associated with hypodysplastic kidney in an infant. We reviewed 135 cases (139 ureteral units) of male ectopic ureter from the Japanese literature and, of the 139 ectopic ureters, 109 were single-system ectopic ureters, and 26 ureters were ...

Two cases of hypoplasia of the right hepatic lobe with gallbladder ectopy, which were diagnosed by computed tomography, are reported here. In each patient, the left hepatic lobe was enlarged. The gallbladder was located in the inferior portion of the liver in one patient and immediately below the right hemidiaphragm ...

PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature ...

Coalescence of the cerebral ventricles with formation of a single forebrain ventricle is described in an unusual case of agenesis of the corpus callosum with dehiscent fornices and severe hydrocephalus. The cerebral hemispheres were fully cleaved. The detached fornices were widely separated from the thalami. The membrana tectoria was retroverted ...

Meningococcal disease (MCD) is registered in two population-based information systems in Denmark because of the interest in long-term surveillance as a means of following trends, and in public health intervention such as chemoprophylaxis and vaccination. The two systems are the Notifiable System of Communicable Diseases (NSCD) and the Hospital Discharge ...

We describe the clinical manifestations, associated abnormalities, MRI appearances and pathologic significance of a case of hypophyseal duplication. A 16-year-old girl presented with delayed sexual development and history of midline craniofacial anomalies. MRI revealed paired infundibula extending inferiorly to two small pituitary glands, a midline hypothalamic mass, and a midline ...

We present a case of bilateral ectopic vas deferens with insertion in the posterior bladder, a rare congenital anomaly related to abnormal distal Wolffian duct development. Common presentations include urinary tract infections, epididymitis or a swollen scrotum although this abnormality can be an asymptomatic, incidental finding. There is also a ...

Agenesis of the corpus callosum is a rare condition, often associated with craniofacial, skeletal and genitourinary abnormalities. We report on a male newborn in whom all of these organ systems were affected. The genitourinary anomaly consisted of vaso-ureteral fusion accompanied by renal, ureteral, vesical, ductal and genital malformations. The diagnostic ...

We report a neonate with 46,XX gonadal agenesis, a rare disorder, confirmed by autopsy, karyotype determination, and fluorescent in situ hybridization examination of intact cells. Multiple other anomalies, including diaphragmatic hernia, a doomed bicuspid aortic valve, and müllerian derivative defects, were present. There was no sexual ambiguity. The age of ...

A 45-yr-old Japanese woman with multiseptate gallbladder, a quite rare congenital anomaly, is presented. Her epigastric pain, with a 35-yr history, was relieved by cholecystectomy. The septa were present only at the neck portion of the gallbladder and were lined by mucosal epithelium containing a muscular layer continuous to the ...

Agenesis of the trachea is a rare anomaly. The main signs are respiratory distress and cyanosis, inability to vocalize and impossible tracheal intubation. In most cases concomitant congenital anomalies of the heart, digestive tract or genitourinary tract are present. Endoscopy and X ray studies will confirm the diagnosis. There is ...

An unusual case of suprahepatic gallbladder with agenesis of the right lobe of the liver is reported. The anomalous position of the gallbladder was detected by ultrasonography. It was shown to be distended and to contain sludge. The suprahepatic location with agenesis of the right lobe of the liver was ...

Internal jugular vein ectasia is a venous anomaly commonly presenting as a unilateral neck swelling in children and adults. Literature reports of bilateral presentation are rare. Bilateral Doppler ultrasonography is the diagnostic investigation of choice. The possible pathology, aetiology and management are discussed. Conservative management of bilateral cases is recommended ...

The use of routine cholangiography during laparoscopic cholecystectomy is still under debate. Previous reports have suggested that intraoperative sonography can replace cholangiography in the evaluation of common duct lithiasis during open cholecystectomy. The present study was performed to evaluate the possible role of sonography during laparoscopic cholecystectomy. Thirty patients underwent ...

Anomalies of the inferior vena cava arise infrequently. Knowledge of their presence can be established preoperatively with a variety of radiologic studies. This knowledge can prevent hemorrhagic complications from occurring during surgery. We present a case report of a patient with renal cell carcinoma and duplication of the inferior vena ...

Bilateral duplication of the ceca in an adult chicken was observed. One characteristic in addition to the duplication was excessive enlargement of one cecum, which contained 336 grams of cecal contents. Undeveloped and developed eggs were also retained in the oviduct because of oviductal atresia. There are few reports of ...

Among development abnormalities of the upper urinary tract, ureteral duplication is a very common finding while triplication is quite rare. Ureteral quadruplication is exceedingly unusual; to our knowledge only three cases have been reported over the past 25 years and all of them concerned adult patients. We present a case ...