Search Results
Results 451 - 500 of 754
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Mohri M - - 2000
Six cases of congenital defect of the vomer, a rare nasal anomaly, are reported. All 6 patients visited Kobe University Hospital with other complaints, and the anomaly was incidentally detected. In all cases, the nasal septum showed a defect at the posteroinferior portion that appeared to coincide with the location ...
Montull C - - 2000
Rhombencephalosynapsis is an unusual disorder characterised by maldevelopment of the rhombencephalon, sometimes with supratentorial midline anomalies. We report MRI findings in a 39-year-old woman, the oldest in the literature. MRI demonstrated hypoplasia of the cerebellar vermis, with fusion of the cerebellar hemispheres and abnormally oriented folia. Supratentorial anomalies were also ...
Kotzot D - - 2000
Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In seven cases a rearrangement between non-sister ...
Lyons K P - - 2000
A 55-year-old woman had recurrent bouts of low substernal and epigastric pain radiating into the interscapular region. A hepatobiliary scan initially showed what was believed to be a dilated common bile duct and nonvisualization of the gallbladder. A delayed image obtained after having the patient move about revealed the presence ...
Moss H D - - 2000
Although rare, anomalies of the nasopalatine region have been reported in the literature mimicking pathoses of endodontic origin. The purpose of this article is to present a case of a patent nasopalatine duct that was originally diagnosed as a sinus tract and referred for endodontic therapy. A review of the ...
Huang C - - 2000
Phakomatosis pigmentovascularis (PPV) is a rare congenital naevoid syndrome; most case reports originate in Japan. The major clinical manifestations consist of coexisting extensive naevus flammeus and pigmentary naevus with or without systemic involvement. We report an 8-year-old Taiwanese boy, who was born with extensive naevus flammeus and other anomalies comprising ...
Digray N C - - 2000
A 6-year-old male presenting with features of intestinal obstruction because of a sequestrated tubular duplication of the colon is reported. The patient also had congenital subglottic stenosis, an association not yet reported with any type of gut duplication. Complete excision of the duplication was done with preservation of vascularity of ...
Yildiz M - - 2000
The palmaris longus muscle (PLM) is extremely variable both in number and form. We present the first reported case of three-headed reversed PLM in a 36-year old woman. The relevant literature is reviewed. Variations of the muscles of the forearm and specifically the PLM are not uncommon. However, different rates ...
Gordts F - - 2000
Twenty-seven cases of choanal atresia operated between 1979 and 2000 have been reported from 4 different institutions (19 females, 8 males, age of first surgical procedure ranging from 2 days to 35 years). Of these 27 cases, 22 were previously untreated. The outcomes for 19 of these new cases were ...
Bohring A - - 1999
We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate ...
Amiel J - - 1999
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial ...
Shin K S - - 1999
A case of colonic duplication producing chronic constipation in a 8-year-old boy is presented. Barium enema studies demonstrated a long tubular shape of duplication that branched out from the lower part of descending colon. Successful surgical treatment was achieved by excision of the duplication with a portion of adjacent bowel ...
Supprian T - - 1999
Absence of the septum pellucidum in the human is a rare congenital anomaly. Previous reports suggest it is almost always associated with other brain anomalies. However, MRI in two patients with absence of the septum pellucidum presented here, indicates that this anomaly may occur without associated anomalies. It may be ...
Goldberg B S - - 1999
Caudal agenesis or caudal regression syndrome refers to a spectrum of malformations involving the lower spine, which can result in significant progressive or permanent neurologic defects. Caudal agenesis is frequently associated with other congenital anomalies of the axillary skeleton, hindgut and genitourinary systems. Described in this paper is a patient ...
Prasad N - - 1999
Accessory urethra or duplication of the urethra is a rare anomaly. The vast majority occur in the sagittal plane; however, collateral or side-by-side duplications in the absence of bladder duplication also exist. We report six cases of urethral duplications. The mode of presentation and the importance of complete examination are ...
Ng W T - - 1999
We present a well-documented case report on migration of the haemostatic clip, along with the two clips that had originally been applied on the cystic duct, into the bile duct forming the nidus of a stone after laparoscopic cholecystectomy--a unique occurrence heretofore unreported. The English language literature on the subject ...
Michael D - - 1999
Intestinal duplications are uncommon but recognised developmental anomalies. Duplications of the rectum are the most uncommon of these anomalies. They may present with perianal fistulae, bleeding, a pelvic mass or symptoms produced by a mass, or, rarely, malignant change. We present a case of an adenocarcinoma within a rectal duplication ...
Karagüzel G - - 1999
The authors report on a newborn girl with complex urogenital and hindgut abnormalities. Urogenital anomalies consisted of absence of vulva and vagina, uterine and urethral atresias, bladder agenesis with ectopic ureteric opening, and bilateral pelvic ectopic kidneys. In addition, the baby had anorectal atresia without fistula as a hindgut anomaly. ...
Maddox J M - - 1999
Gallbladder duplication is an unusual congenital biliary anomaly, and its laparoscopic management has rarely been described. This is a report of a gallbladder duplication successfully treated with laparoscopic cholecystectomies. Previous cases are summarized, and recommendations for optimal laparoscopic management are presented.
Evans J A - - 1999
We describe five new cases of tracheal agenesis and report on epidemiological and numerical analyses of nearly 100 such cases with multiple congenital anomalies. Malformations seen with tracheal agenesis form patterns which overlap with, but are distinct from, VACTERL association. They have a high frequency of other lower respiratory tract ...
Ross A C - - 1999
Carcinoids of the extrahepatic bile ducts and particularly the common bile duct are extremely rare. A 65-year-old woman presented with obstructive jaundice. Laboratory and imaging studies gave results that were consistent with an obstructing lesion in the common bile duct. In this case, a stent was inserted initially to decompress ...
al Muti Zaitoun A - - 1999
Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of ...
Redkar R G - - 1999
A rare hepatobiliary malformation in which the common hepatic duct drains directly into the gallbladder or the cystic duct (cholecystohepatic duct) is described in two children born with oesophageal atresia. Attention is drawn to the rarity of this combination. A brief review of the literature of cholecystohepatic and accessory hepatic ...
Mutlu N - - 1999
We report a case of glandular diphallus with incomplete urethral duplication associated with rotation anomaly in the right kidney, complete ureteral duplication and ectopic ureteral orifice in the left. The bladder was single with good sphincter control. At operation, the hypoplastic glans was resected and the urethra opening into this ...
Jamshidi M - - 1999
Intraperitoneal bile collection following laparoscopic cholecystectomy has been reported to occur in 0.2-2% of cases and appears to be slightly higher than when the open technique is used. When the injuries of the common bile duct, technical problems with the cystic duct, diathermic injuries to the biliary tree, and iatrogenic ...
Chou C K - - 1998
BACKGROUND: To identify and differentiate agenesis and severe atrophy of the right hepatic lobe on computed tomography (CT). METHODS: The CT examinations of three cases of agenesis and 11 cases of severe atrophy of the right hepatic lobe were reviewed. We evaluated visibility of the three hepatic veins, the two ...
Simanovsky N - - 1998
Characteristic biliary tree abnormalities in metachromatic leukodystrophy (MLD) include gallbladder polyposis and haemobilia. We report two brothers with MLD, who presented with uncommon biliary complications. One presented with gastric outlet obstruction secondary to gallbladder enlargement, which was treated by percutaneous aspiration. He later developed gallbladder carcinoma with liver metastases. His ...
Velioglu SK - - 1998
We describe the clinical and MRI findings in a 22-year-old male patient with absence of the cerebellum, an extremely rare anomaly. Clinical features included ataxia of limbs, gait and stance, cerebellar oculomotor signs. MRI evaluation showed minute remnants of cerebellar tissue corresponding to the anterior quadrangular lobules. Nine previous cases ...
Gómez Robledo J - - 1998
I report the case of a 15-year-old white girl with an asymptomatic scapholunotriquetral fusion associated with a capitometacarpal coalition in the right wrist. She had additional anomalies of the fifth ray including shortening and ulnar deviation of the fifth metacarpal, brachydactyly of the little finger, fusion of the fourth and ...
Seyhan A - - 1998
This study examines one of the largest pedigrees with radial polydactyly type IV (uncomplicated polysyndactyly) comprising a total of 69 individuals, of whom 26 have been affected over six generations. Typical manifestations of the pedigree were bilateral radial and ulnar digital duplications, as well as syndactyly between the middle and ...
Sarica K - - 1998
Sacral agenesis is a rare congenital abnormality of the lower vertebral column which is frequently associated with neurological, orthopedic as well as urological malformations. With regard to the incidence of the anomaly, although approximately 200 cases have been reported previously, the occurrence of sacral agenesis in siblings has only rarely ...
Denys A - - 1998
We report three cases of a rare form of cavernoma developed within the wall of the common bile duct. To our knowledge, this kind of portal cavernoma has not been described in the literature. Because the cavernoma may be easily confused with other causes of bile duct wall thickening, color ...
Babovic-Vuksanovic D - - 1998
We present cytogenetic and clinical findings in a familial case of dup(17)(q24q25.1). The duplication was transmitted from the mosaic mother to two non-mosaic daughters. This is the first report involving duplication of 17q24q25.1. Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications, ...
Magnano G M - - 1998
Two cases of recurrent pancreatitis, due to duodenal duplication, are reported. The aim of this paper is to emphasise the role of endoscopic retrograde cholangiopancreatography (ERCP) or percutaneous transhepatic cholangiography (PTC) in the detection of associated pancreaticobiliary anomalies and in the planning of the correct surgical approach. The order of ...
Rajah S - - 1998
Rectal duplications are rare anomalies. Recently, we observed four cases of rectal duplication, each presenting with different clinical features including chronic constipation, a prolapsing rectal "polyp, " a "growth" from the vulva, and acute retention of urine. The variety of clinical presentations may lead to delay in diagnosis and multiple ...
Dòmini M - - 1998
Ectopic location of the vas deferens is a rare congenital anomaly with multiple variations. The frequent association with ano-rectal abnormalities and hypospadias is well known. We report two cases of a newborn and a 3-year-old child with ectopic vas deferens coupled with a left multicystic kidney without any ureteral structure. ...
Gittes G K - - 1998
Horseshoe kidney is a common anomaly with frequent associated anomalies. The confluence of the lower poles of the kidneys lies anterior to the inferior vena cava. The authors were unable to find any reports in the world's literature of a vena caval obstruction caused by the presence of a horseshoe ...
Yamagiwa I - - 1998
An infant with a rare type of esophageal/tracheal anomaly associated with heterotopic pancreas of the esophagus is herein reported. The upper pouch containing heterotopic pancreas reached 1.5 cm below the tracheal carina, and the distal esophagus connected to the trachea 2 cm above the tracheal carina and thus formed a ...
Leung C S - - 1998
Porokeratotic eccrine ostial and dermal duct naevus (PEODDN) is a rare, benign hamartomatous malformation involving the eccrine sweat duct. The existence of filiform keratinous plugs that represent cornoid lamellae overlying dilated infundibula of eccrine ducts is a distinctive feature and the presence of associated abnormal dermal ducts is frequent. We ...
Hoar R M - - 1998
A rare case of ectopic scrotum is described together with a review of the literature and a discussion of the embryological role of the gubernaculum in the formation and location of normal and ectopic scrota. We identified 16 reported cases of a suprainguinal ectopic scrotum, 4 cases of a femoral ...
Feeney M S - - 1998
A case of accessory talus is described in which a large ossicle on the medial aspect of the talus had formed an articulation with the distal tibial epiphysis and had produced a fixed equinus deformity of the ankle. We propose that this ossicle, in association with a previously excised accessory ...
Bonilla J A - - 1998
Aplasia of the epiglottis is a rare laryngeal anomaly. We present a case of absence of the epiglottis in a child whose clinical course has been followed for nine years. She required a tracheostomy at two years of age for obstructive sleep apnea which resulted in heart failure; she was ...
Mondet F - - 1998
Partial ureteral duplication in an inverted Y is evidenced by the presence of a ureter duplicated at a variable level before reaching the bladder, in either an orthotopic or an ectopic position. A case of ureteral duplication at the level of the renal hilum with opening of a ureter at ...
de la Torre J - - 1998
An unusual case is presented of bilateral, complete digital duplication on the hand of a 9-month-old boy. Radiographic evaluation showed duplication of intact phalanges and metacarpals. Although ulnar polydactyly has been described as one of the most common congenital anomalies of the extremities, it usually manifests itself as a rudimentary ...
Avisse C - - 1998
The authors report 17 cases of a right non-recurrent inferior laryngeal n. (NRILN) observed during 15 years of practice of thyroid and parathyroid surgery. In their last two cases, the existence of an aberrant right subclavian a., constantly associated with NRILN, was confirmed by MRI angiography. On the basis of ...
Gupta N P - - 1998
Female incontinent episadias is a very rare congenital anomaly presenting in childhood. We report 2 cases of adults presenting with this anomaly. These were treated by total genitourinary reconstruction in a single stage using a combined perineal abdominal approach, with satisfactory results. We recommend this technique as the procedure of ...
Ooshima I - - 1998
Preduodenal portal vein (PDPV) is a rare developmental anomaly. We recently encountered this anomaly in a 73-year-old woman who had gastric cancer and colonic cancer with liver metastasis. The PDPV was diagnosed preoperatively by computed tomography and angiography. To the best of our knowledge, there are only 19 adult cases ...
Wheeler P G - - 1997
We present the findings of 13 additional cases of the urorectal septum malformation (URSM) sequence, and review the literature. The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings. The sex ratio of the 13 new cases was 7 males to 6 females and from ...
Stokes J R - - 1997
Anomalies of bronchial branching are infrequent and may be difficult to diagnose. The bridging bronchus is a rarely reported anomaly that may not be as sporadic as once thought. We describe an infant with respiratory distress whose right middle and lower lobes were supplied by a bridging bronchus arising from ...
Chung C C CC Department of Surgery, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong - - 1997
A case of the rare congenital anomaly ectopic gallbladder is presented. A 16-year-old girl suffered attacks of epigastric pain unrelated to eating. On abdominal ultrasonography, the gallbladder could not be found in its usual position. Endoscopic retrograde cholangiography demonstrated the gallbladder on the left side of the common duct and ...
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