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Blickman J G - - 2006
Diagnosis of colonic duplication can pose a potential problem even for those familiar with gastro-intestinal tract duplications in general but unaware of the condition due to its rarity and its apparently bimodal clinical presentation. In this report of five cases of surgically proven pediatric colonic duplication, we illustrate how the ...
Craigie Ross J - - 2006
The association of hindgut duplication and anorectal malformation is rare. Published classifications of this association are confusing in respect of terminology. We report a case of blind-ending, Y-shaped tubular duplication of the distal hindgut, associated with an anorectal malformation (rectourethral fistula) affecting the colon proper. Surgical options at time of ...
Maganzini Anthony L - - 2006
Bartsocas-Papas Syndrome (BPS) is a rare congenital disorder, first described in 1972. It is usually characterized by neonatal or intrauterine death, and, as such, only 26 cases have been reported. Physical manifestations such as antecubital and popliteal pterygia (webbing), syndactyly of fingers, toes and talipes are frequently reported. However, oral, ...
Cappellacci S - - 2006
We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy-Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto- and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, ...
Brandes Blanca M - - 2006
Anomalies of the urogenital sinus have been described in association with male pseudohermaphroditism, bladder and uterine duplication, and a spectrum of external genital anomalies, including a female phallic urethra. The evaluation and optimal surgical management of these anomalies can be complex. We describe a case of a female patient with ...
Bilen Cenk Y - - 2006
Ectopic ureter in a duplicated system in men is rare and rarely causes bilateral obstructive symptoms. The tendency of the ureter to dilate more than the caliceal system is unique to neonates and makes upper urinary diversions more challenging. However, alternative percutaneous diversions other than nephrostomy might be beared in ...
Douyard Jaclyn - - 2006
BACKGROUND: Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication. CASE: We present a 4.5-year-old girl with a de novo direct duplication of chromosome 5q15-q23.2. She has moderate developmental delay ...
Li S-P - - 2006
Epiglottis anomaly associated with Pierre Robin sequence (PRS) is a rare occurrence. To the knowledge of the authors, this is the first reported case of epiglottic anomaly associated with PRS. Doctors should remain aware of this atypical presentation in a PRS patient, and the presented case highlights the clinical challenges ...
Chou C T - - 2006
We report a rare case of bilateral retrocaval ureters associated with duplicated inferior renal cava. A 69-year-old woman was sent to our emergency room for abdominal pain. Multidetector computed tomogram with multiplanar reconstruction revealed duplicated inferior renal cavae and the bilateral ureters were positioned behind the duplicated inferior vena cava. ...
Tsai Ching-Chung - - 2006
We report a child of elongated retrocecal appendicitis who presented with abdominal pain over the right upper quadrant and circular skin erythema over the right flank. Sonography showed an elongated tubular structure over the right abdomen. By the location, relationship to adjacent tissue and origin of tubular structure, the sonographic ...
Modi Pranjal - - 2006
An 8-year-old boy with right flank pain was found on ultrasonography and intravenous urography to have hydronephrosis secondary to ureteropelvic junction obstruction with calculi in the lower pole of the right kidney and a fusion anomaly. Transperitoneal laparoscopic dismembered pyeloplasty and removal of calculi was carried out. The patient had ...
Safioleas Michael C - - 2006
Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent ...
Boris Ronald S - - 2006
We report an interesting case of ureteral tumor involving both limbs of an incompletely duplicated ureter. Such a case has not been reported in the literature. A 51-year-old female presented with refractory hematuria. A complete evaluation revealed an incompletely duplicated right system with an isolated distal ureteral tumor extending proximally ...
Garavelli L - - 2006
Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The ...
Isse Kumiko - - 2006
Distribution of intra-epithelial lymphocytes along intrahepatic biliary tree (bIEL), and their density and phenotype were examined in normal and diseased livers, particularly in primary biliary cirrhosis (PBC). Immunohistochemically, bIEL were examined in 28 normal livers, 13 cases of chronic viral hepatitis (CVH), 13 cases of PBC, five cases of primary ...
Sánchez Margarita Montero - - 2006
Urethral duplication is a rare congenital anomaly, affecting mainly boys. Generally, the duplication develops on the sagittal plane; the accessory urethra may run dorsally or ventrally to the orthotopic one. The embryology of this pathology is still controversial. In the English medical literature, approximately 175 cases have been reported. We ...
Perrini Paolo - - 2006
Developmental venous anomalies (DVAs) are often associated with intracranial cavernous malformations (CMs). The frequency of this association and the observation of de novo CMs located near a known, preexisting DVA raise speculations as to the possible etiopathogenetic relationship between the two. In this article, the authors review the recent literature ...
Emmez Hakan - - 2006
Existence of multiple cranial and spinal anomalies in spina bifida is well known; however, coexistence of seven different severe anomalies is extremely rare. The location of the anomalies, the patient's age and presentation are other interesting aspects of the presented case. A 1-year-old girl with an enlarged head and big, ...
Etzell Joan E - - 2006
Pelger-Huët anomaly is a congenital or acquired abnormality of neutrophil nuclear segmentation. The acquired form may be a result of a clonal myeloid malignancy, such as myelodysplastic syndrome, or may be a secondary nonclonal change related to a variety of underlying causes, including infections and medications. We report a case ...
Hamano Kimiko - - 2006
We describe an autopsy female case of multiple anomalies with lobulation of caudate nucleus tail, diaphragmatic eventration, skeletal anomalies, pyramidal tract anomaly, and meningothelial meningioma. Her psychomotor development was delayed, and she developed bilateral eventration of the diaphragms on X-ray film in her third decades. Right hemi-colonectomy was performed for ...
Saha Subodh Ranjan - - 2005
The study was undertaken to review the incidence and types of associated congenital urogenital anomalies in patients with anorectal malformations (ARM) and compare the results with previously published world literature. Retrospective review was done of 220 cases of ARM, treated during May 2002 to April 2003. All patients routinely underwent ...
Sasaki Atsushi - - 2005
Double gallbladder is a rare congenital malformation and generally considered a duplication of 1 primordium. We encountered an extremely rare case of double gallbladder of the duodenal type that was considered a duplication of 2 primordia. We were able to diagnose the anomaly preoperatively by endoscopic retrograde cholangiopancreatography and spiral ...
Peloponissios Nicolas - - 2005
Isolated agenesis of the gallbladder is a rare anomaly, often asymptomatic. However, one patient out of four presented with right upper abdominal pain, nausea, and fatty food intolerance. The condition is frequently mistaken with an excluded or sclero-atrophic gallbladder, regardless of the imaging modality used. Consequently, AG often leads to ...
Yamamoto Takafumi - - 2005
Multiseptate gallbladder, characterized by the presence of multiple septa dividing the gallbladder lumen, is a very extremely rare congenital anomaly of the gallbladder. On the other hand, anomalous pancreaticobiliary ductal union is also one of the congenital anomalous biliary diseases and thought to be related with choledochal cyst or biliary ...
Bouhafs Amine - - 2006
Duplicate bladder exstrophy is an extremely rare congenital malformation. Two forms have been described, the anteroposterior form and the collateral form, which is the less common. We report a case of bladder exstrophy in association with a duplicated lower urinary tract, omphalocele, colic duplication and diphallia. Fewer than 30 cases ...
Rozen Warren Matthew - - 2005
The biphalangeal little toe is an anatomical anomaly that has been previously well described in the early anatomical literature. But, as is the case with many anomalies, there is a lack of awareness of it amongst current clinicians. We report the case of a fracture through the distal phalanx of ...
Erdogmus B - - 2005
Developmental anomalies of the corpus callosum are agenesis, hypogenesis, or hypoplasia. In this case, a hump-shaped anomaly was present in the body of the corpus callosum. The rostrum, genu, and splenium of the corpus callosum were normal. In addition, a split was present within this hump, connecting the lateral ventricles. ...
Anderson Peter J - - 2005
OBJECTIVE: Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies. The exact nature of the spinal anomalies remains poorly defined in the existing craniofacial literature, possibly due to these anomalies being managed by orthopedic surgeons rather than by craniofacial surgeons. The aim of this ...
Fotiadis C - - 2005
Gastrointestinal duplication is an uncommon congenital abnormality in two-thirds of cases manifesting before the age of 2 years. Ileal duplication is common while colonic duplication, either cystic or tubular, is a rather unusual clinical entity that remains asymptomatic and undiagnosed in most cases. Mostly occurring in pediatric patients, colonic duplication ...
Felix Janine F - - 2006
Tracheal agenesis is a rare congenital malformation, which is usually fatal in the newborn period. Its incidence is approximately 1 in 50,000 births. Presentation is with respiratory insufficiency and no audible cry. Other anomalies are found in most cases. Six cases of tracheal agenesis were seen in our hospital since ...
Papaziogas Basilios - - 2005
Congenital duplication of the gallbladder is a rare anatomical malformation, which is usually discovered as an incidental finding during cholecystectomy. We report a case of a double gallbladder in a 45-year-old woman, which was discovered during laparoscopic cholecystectomy for symptomatic cholelithiasis. As it was not possible to identify the anatomical ...
Priyadarshi Shivam - - 2005
A 1-year-old boy presented with complete duplication of the penis, with an ectopic bowel segment as an associated anomaly. The boy had duplicated epispadiac urethras. The right one ended blindly whereas the left one was patent, leading into the bladder. There was separation of the symphysis pubis and bifid scrotum. ...
Hunter Alasdair G W - - 2005
The human pinna has a complex shape and yet the basic components of normal structure are remarkably constant between individuals. It is precocious in its appearance during embryogenesis and it has been subject to many developmental and surgical studies, yet questions remain as to its primary embryogenesis and the causes ...
Srivastava Vaishali, Ray A.K., ...
Background : The objective of the paper is to review the incidence and types of associated urogenital anomalies (U.G.A.) we encountered in patients with anorectal malformations (A.R.M.) and compare the results with previously published world literature. Materials and Methods: Retrospective review was done of 220 cases of A.R.M., treated from ...
Secil Mustafa - - 2005
Adenomyomatosis (adenomyomatous hyperplasia) of the gallbladder is a benign process of unknown origin that has been classified into three morphologic types: diffuse, segmental, and focal (fundal). Cases of combined (segmental and focal) forms involving the gallbladder body are very rare. We present the sonographic findings of a case having adenomyomatosis ...
Nakajima Tetsuo - - 2005
We report a case of a young athlete with a symptomatic anomaly of the medial meniscus. An anomalous portion in conjunction with the anterior horn of the medial meniscus extended to the intercondylar notch of the femur through the surface of the anterior cruciate ligament. This anomalous band was arthroscopically ...
Rodríguez C Rodríguez - - 2005
Antral duplication cyst with an antral mucosal lining accounts for 2.2% of all gastric duplications, which represent 4-8% of all alimentary tract duplications. They usually become symptomatic before 2 years of age. We report a 6-year-old child with no previous history of symptoms who was admitted to our hospital because ...
Mehra Shveta - - 2005
We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm ...
Parikh Tushar B - - 2005
Sirenomelia is an exceptionally rare congenital malformation characterized by complete or near complete fusion of lower limbs. A newborn with clinical features of sirenomelia including fused lower limbs in medial position, absent fibula, anal atresia, complete absence of urogenital system (bilateral renal agenesis, absent ureters, urinary bladder, absent internal and ...
Rathi V - - 2005
Barium enema studies are considered essential for the diagnosis of tubular colonic duplication with opacification of two colons being the diagnostic sign. Yet in certain cases, barium enema apparently does not show positive findings. A case is reported in which a barium follow-through study established the complete diagnosis of duplication ...
Sharma Kamlesh K - - 2005
Duplication of alimentary canal is a well-known entity seen commonly in the abdomen and the thorax. Esophageal duplications are the second most common ones after the ideal duplications, but those in the neck are rarer-only 8 cases have been seen earlier. Cervical esophageal duplication in its isolated form causing torticollis ...
Tubbs R Shane - - 2005
This article describes an extremely rare case, encountered in the anatomy laboratory, of a skull base found to have duplication of both occipital condyles. In addition, this specimen was noted to have a large bony excrescence near the basion, a small third occipital condyle, a left paracondylar process, elongation of ...
Kim Young Wan - - 2005
Colonic duplication is a rare congenital anomaly of the alimentary tract. In most cases, symptomatic duplications of the colon are recognized and treated by childhood. It is uncommon for these lesions to be detected in the adulthood since they present with vague symptoms if at all. We experienced a case ...
Abou-Elhamd Kamal-Eldin Ahmed - - 2005
Proboscis lateralis is one of the rare craniofacial congenital anomalies which presents as an obvious deformity of the nose. It tends to occur in male offspring of consanguineous marriages. This is a report of computerized tomography of this rare anomaly. In proboscis lateralis, the nasal cavity on one side is ...
Shaikh Almaas A - - 2005
Gallbladder volvulus is defined as the rotation of the gallbladder on its mesentery along the axis of the cystic duct and cystic artery. It is an unusual and rare occurrence with a predilection for women in their seventh or eight decades of life. Only about 300 cases have been reported ...
Mutlu Hakan - - 2004
We report a case of pituitary duplication in a neonate girl whose magnetic resonance (MR) images showed unusual findings of hypogenesis of the corpus callosum and oral dermoid. Pituitary duplication is an extremely rare malformation, with only a few previously reported cases. It occurs most commonly in association with complicated ...
Aube Christophe - - 2004
BACKGROUND/AIMS: Until recently, in-depth anatomic study of the biliopancreatic ducts was only possible with injection-corrosion techniques or peroperative radiology. These were tedious and tributary of the quality of anatomic specimens. Since 1990, a new minimally invasive technique has been available: nuclear magnetic resonance cholangiography (NMRCP). The aim of the study ...
Erdogmus Besir - - 2004
Multiseptate gallbladder is a rare congenital malformation of the gallbladder. In some cases, right upper quadrant pain, recurrent abdominal pain, and gallstones were present. We present the sonographic findings in a case of multiseptate gallbladder with acute cholecystitis, which (to our knowledge) has not been reported before. We hypothesize that ...
Evert Matthias - - 2004
We describe an unusual form of xanthogranulomatous cholecystitis in a 69-year-old man, with abundant intramural concrement formation and a local fibroelastosis of the adjacent interstitium and arteries. The gallbladder was obtained following resection of an adenocarcinoma of the gastro-esophageal junction without evidence of metastases. Only two cases of fibroelastosis of ...
Dunn Randall - - 2004
OBJECTIVE: To report a rare müllerian anomaly with a blind cervical pouch. DESIGN: Case report. SETTING: Private practice and community hospital. PATIENT(S): A 27-year-old nulliparous patient referred for evaluation of suspected müllerian anomaly. INTERVENTION(S): Clinical and outpatient surgical evaluation of the anomaly. MAIN OUTCOME MEASURE(S): Assessment of the anomaly according ...
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