Limb-body wall complex, also known short umbilical cord syndrome and body stalk anomaly, is a complex set of disruptive abnormalities consisting of failure of ventral body wall to close, short umbilical cord, disruption of lateral body wall, distinctive scoliosis of spine, limb defects, facial defects and cranial defects. This disorder has similar findings to amnioitic band syndrome. but limb-body wall complex appears severe scoliosis of spine, herniation of internal organs, absent or short umbilical cord. Recently, we present a case of limb-body wall complex which found at 32+1 weeks. A case was diagnosed with ultrasonography, so we report a case of limb-body wall complex with brief review of literature.
Extremities ; Scoliosis ; Spine ; Ultrasonography ; Umbilical Cord

OBJECTIVE: To evaluate pattern of associated structural anomalies, abnormal karyotypes and perinatal outcomes of fetuses with prenatally diagnosed single umbilical artery and to evaluate the relation of absent side of a single umbilical artery in association with anomalies and abnormal karyotypes. MATERIALS AND METHODS: 30 fetuses with a single umbilical artery were detected by prenatal ultrasound examnination between March 1998 and June 2001 at Eul-Ji University Hospital. All medical records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. RESULTS: Of the 30 fetuses, 11 (36.7%) were terminated because of severe anomalies and 2 (6.7%) experienced neonatal death. 17 fetuses (56.7%) had an associated structural anomaly. The structural anomalies found in association with single umbilical artery were cardiovascularac system (9 cases, 30.0%), urogenital system (6 cases, 20.0%), central nervous system (5 case, 16.7%) and ectopia cordis (1 case, 5.9%) and 7 cases (20%) among these had multiple malformations. Karyotype analysis was availabe in 25 cases and 5 (20%) of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect diagnosed on prenatal ultrasound examination in addition to the single umbilical artery. Of 13 fetuses without any associated structural or chromosomal anomalies, 3 (23.1%) demonstrated growth restriction. Of the 26 cases identified the absent side of a single umbilical artery, the right umbilical artery was absent in 13 (50%) and the left in 13 (50%) fetuses. The frequency with associated structural and chromosomal anomalies was equal on right (53.8%; 15.4%) and left (69.2%; 15.4%) sides. CONCLUSION: Scanning the umbilical cord should be one of the essential parts of 2 nd trimester ultrasonographic examination. When single umbilical artery is detected, a detailed ultrasonographic examnination including fetal echocardiography and fetal karyotyping should be recommended for search of associated structural and chromosomal abnormalities. In cases where single umbilical artery is an isolated finding on prenatal ultrasound, careful attention to fetal growth is necessary.
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Demography ; Echocardiography ; Ectopia Cordis ; Fetal Development ; Fetus* ; Karyotype ; Karyotyping ; Medical Records ; Pregnancy Complications ; Single Umbilical Artery* ; Ultrasonography ; Umbilical Arteries ; Umbilical Cord ; Urogenital System

OBJECTIVE: To evaluate pattern of associated structural anomalies, abnormal karyotypes and perinatal outcomes of fetuses with prenatally diagnosed single umbilical artery and to evaluate the relation of absent side of a single umbilical artery in association with anomalies and abnormal karyotypes. MATERIALS AND METHODS: 30 fetuses with a single umbilical artery were detected by prenatal ultrasound examnination between March 1998 and June 2001 at Eul-Ji University Hospital. All medical records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. RESULTS: Of the 30 fetuses, 11 (36.7%) were terminated because of severe anomalies and 2 (6.7%) experienced neonatal death. 17 fetuses (56.7%) had an associated structural anomaly. The structural anomalies found in association with single umbilical artery were cardiovascularac system (9 cases, 30.0%), urogenital system (6 cases, 20.0%), central nervous system (5 case, 16.7%) and ectopia cordis (1 case, 5.9%) and 7 cases (20%) among these had multiple malformations. Karyotype analysis was availabe in 25 cases and 5 (20%) of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect diagnosed on prenatal ultrasound examination in addition to the single umbilical artery. Of 13 fetuses without any associated structural or chromosomal anomalies, 3 (23.1%) demonstrated growth restriction. Of the 26 cases identified the absent side of a single umbilical artery, the right umbilical artery was absent in 13 (50%) and the left in 13 (50%) fetuses. The frequency with associated structural and chromosomal anomalies was equal on right (53.8%; 15.4%) and left (69.2%; 15.4%) sides. CONCLUSION: Scanning the umbilical cord should be one of the essential parts of 2 nd trimester ultrasonographic examination. When single umbilical artery is detected, a detailed ultrasonographic examnination including fetal echocardiography and fetal karyotyping should be recommended for search of associated structural and chromosomal abnormalities. In cases where single umbilical artery is an isolated finding on prenatal ultrasound, careful attention to fetal growth is necessary.
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Demography ; Echocardiography ; Ectopia Cordis ; Fetal Development ; Fetus* ; Karyotype ; Karyotyping ; Medical Records ; Pregnancy Complications ; Single Umbilical Artery* ; Ultrasonography ; Umbilical Arteries ; Umbilical Cord ; Urogenital System

The Jarcho-Levin syndrome (spondylothoracic dysplasia) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects. The small size of thorax in newborns frequently leads to respiratory insufficiency and death in neonates or infancy. We reports the prenatal diagnosis using ultrasonography of a fetus affected with spondylothoracic dysplasia, or Jarcho-Levin syndrome, in patient without a positive family history for this condition.
Fetus ; Humans ; Infant, Newborn ; Neck ; Prenatal Diagnosis* ; Respiratory Insufficiency ; Ribs ; Thorax ; Ultrasonography*

The Jarcho-Levin syndrome (spondylothoracic dysplasia) is a rare autosomal recessive disorder characterized by a short neck, short trunk and a constricted thorax due to multiple rib and vertebral defects. The small size of thorax in newborns frequently leads to respiratory insufficiency and death in neonates or infancy. We reports the prenatal diagnosis using ultrasonography of a fetus affected with spondylothoracic dysplasia, or Jarcho-Levin syndrome, in patient without a positive family history for this condition.
Fetus ; Humans ; Infant, Newborn ; Neck ; Prenatal Diagnosis* ; Respiratory Insufficiency ; Ribs ; Thorax ; Ultrasonography*

PURPOSE: Endoscopic incision of ureterocele is considered a simple and safe method for decompression of urinary tract obstruction above ureterocele. The purpose of this study was to evaluate the radiological findings after endoscopic incision of ureterocele. MATERIALS AND METHODS: We retrospectively reviewed the radiological findings ultrasonography (US), intravenous urography, and voiding cystourethrography(VCU)] in 16 patients with ureterocele who underwent endoscopic incision (mean age at surgery, 15 months; M: F=3:13; 18 ureteroceles). According to the postoperative results, treatment was classified as successful when urinary tract obstruction improved without additional treatment, partially successful when medical treatment was still required, and second operation when additional surgical treatment was required. RESULTS: Postoperative US (n=10) showed that in all patients, urinary tract obstruction was relieved: the kidney parenchyma was thicker and the ureterocele was smaller. Intravenous urography (n=8), demonstrated that in all patients, urinary tract obstruction and the excretory function of the kidney had improved. Postoperative VCU indicated that in 92% of patients (12 of 13), endoscopic incision of the ureterocele led to vesicoureteral reflux(VUR). Of these twelve, seven (58%) showed VUR of more than grade 3, while newly developed VUR was seen in five of eight patients (63%) who had preoperative VCU. Surgery was successful in four patients (25%), partially successful in three (19%), and a second operation-on account of recurrent urinary tract infection and VUR of more than grade 3 during the follow-up period was required by nine (56%). CONCLUSION: Although endoscopic incision of a ureterocele is a useful way of relieving urinary tract obstruction, an ensuing complication may be VUR. Postoperative US and intravenous urography should be used to evaluate parenchymal change in the kidney and improvement of urinary tract obstruction, while to assess the extent of VUR during the follow-up period, postoperative VCU is required.
Decompression ; Endoscopy ; Follow-Up Studies ; Humans ; Kidney ; Postoperative Period ; Retrospective Studies ; Ultrasonography ; Ureterocele* ; Urinary Tract ; Urinary Tract Infections ; Urography

An ultrasonographic examination revealed increased fetal bladder size and decreased AFI as well as fetal bilateral hydronephrosis at 173weeks' gestation. Diagnosis of the fetal posterior urethral valve syndrome was made. Percutaneous fetal bladder puncture with aspiration and amniocentesis was performed. The fetus was normal male karyotype and with a predicted good renal function(sodium concentration, chloride concentration, and osmolarity at 74 mEq/L, 60 mEq/L, and 148 mOsm, respectively). So, the fetus underwent amnioinfusion and vesico-amniotic shunting procedure (VASP) using a double-basket catheter at 194weeks' gestation in order to prevent development of dysplastic kidneys and hypoplastic lungs. The healthy male baby was delivered at 384weeks' gestation and had normally functioning kidney. Cutaneous vesicostomy was performed for the newborn since the urethral orifice was small. The one year old infant is now well and waiting for urethroscopic valve ablation procedure.
Amniocentesis ; Catheters ; Cystostomy ; Diagnosis ; Fetus ; Humans ; Hydronephrosis ; Infant ; Infant, Newborn ; Karyotype ; Kidney ; Lung ; Male ; Osmolar Concentration ; Pregnancy* ; Punctures ; Urinary Bladder

PURPOSE: To evaluate the usefulness of dynamic gadolinium-enhanced MR imaging in the staging of bladder cancer. MATERIALS AND METHODS: Twenty-four patients with histologically proven bladder cancer underwent MR imaging before tumor resection. Pre contrast axial or sagittal T1- and T2-weighted images were obtained in all patients. In 12, dynamic MR imaging was performed using the 3D-EFGRE technique in the axial plane. Images were obtained 30, 90, and 180 sec after a rapid hand injection of Gd-DTPA. T1W1, T2W1, and Gd-enhanced dynamic images were compared on the basis of lesion conspicuity and correlated with histologic specimens. The signal intensity ratio (SIR) of bladder tumors, muscle, and perivesical fat during each phase, and the contrast-to-noise ratio (CNR) of lesion-to-muscle and lesion-to-fat were determined. RESULTS: The accuracy of tumor staging using both T1WI and T2WI was 38% (9/24), and the accuracy of dynamic gadolinium enhanced MR imaging was 58% (7/12). The difference was statistically significant (p<0.05). The SIR of tumors was highest during the capillary phase, and decreased during the venous phase. During all phases i t was significantl y higher than that of bladder muscle and perivesi cal fat ( P < 0.05). The CNR of tumor-to-muscle and tumor-to-perivesical fat increased abruptly during the arterial phase, was highest during the capillary phase and decreased slightly during the venous phase. CONCLUSION: Dynamic gadolinium enhanced MR imaging improves the diagnostic accuracy of both T1WI and T2WI in the preoperative staging of bladder cancer and can be useful in the management and estimation of prognosis. For evalvation of the staging of bladder cancer, the capillary phase is optimal.
Capillaries ; Gadolinium ; Gadolinium DTPA ; Hand ; Humans ; Magnetic Resonance Imaging* ; Neoplasm Staging ; Prognosis ; Urinary Bladder Neoplasms* ; Urinary Bladder*

PURPOSE: To evaluate the usefulness of dynamic gadolinium-enhanced MR imaging in the staging of bladder cancer. MATERIALS AND METHODS: Twenty-four patients with histologically proven bladder cancer underwent MR imaging before tumor resection. Pre contrast axial or sagittal T1- and T2-weighted images were obtained in all patients. In 12, dynamic MR imaging was performed using the 3D-EFGRE technique in the axial plane. Images were obtained 30, 90, and 180 sec after a rapid hand injection of Gd-DTPA. T1W1, T2W1, and Gd-enhanced dynamic images were compared on the basis of lesion conspicuity and correlated with histologic specimens. The signal intensity ratio (SIR) of bladder tumors, muscle, and perivesical fat during each phase, and the contrast-to-noise ratio (CNR) of lesion-to-muscle and lesion-to-fat were determined. RESULTS: The accuracy of tumor staging using both T1WI and T2WI was 38% (9/24), and the accuracy of dynamic gadolinium enhanced MR imaging was 58% (7/12). The difference was statistically significant (p<0.05). The SIR of tumors was highest during the capillary phase, and decreased during the venous phase. During all phases i t was significantl y higher than that of bladder muscle and perivesi cal fat ( P < 0.05). The CNR of tumor-to-muscle and tumor-to-perivesical fat increased abruptly during the arterial phase, was highest during the capillary phase and decreased slightly during the venous phase. CONCLUSION: Dynamic gadolinium enhanced MR imaging improves the diagnostic accuracy of both T1WI and T2WI in the preoperative staging of bladder cancer and can be useful in the management and estimation of prognosis. For evalvation of the staging of bladder cancer, the capillary phase is optimal.
Capillaries ; Gadolinium ; Gadolinium DTPA ; Hand ; Humans ; Magnetic Resonance Imaging* ; Neoplasm Staging ; Prognosis ; Urinary Bladder Neoplasms* ; Urinary Bladder*

PURPOSE: To evaluate the CT appearance of normal variations in the minute central skull base foramina in infants and children. MATERIALS AND METHODS: One hundred and fourteen children under the age of 17 years without skull base abnormality underwent CT scanning. A high spatial frequency algorithm was used, and contiguous axial scanning parallel to the orbitomeatal line was performed from the foramen magnum to the orbital roof, with a 1-mm slice thickness. The presence or absence of eight foramina, pseudoforamina, or ossification centers including anterior presphenoidal foramen, posterior presphenoidal foramen, rostro-orbital pseudoforamen, intralateromedial postsphenoidal pseudoforamen, intrapostsphenoidal pseudoforamen, spheno-occipital pseudo-foramen, canalis basilaris medianus and intrasynchondral ossified bodies was analysed according to age. The presence of foramina or pseudoforamina was indicated if a ring-shaped structure was seen on two or more CT scans at the location anatomically predicted, and intrasynchondral ossified bodies were indicated if linear or dot-like structures with high attenuation accompanied spheno-occipital synchondrosis. RESULTS: CT indicated that within a certain age range, various kinds of foramina, pseudoforamina, and ossification centers were frequent. The anterior presphenoidal foramen was most commonly seen in infants aged 1-12 months (16/17, 94 %); the posterior presphenoidal foramen in children less than 2 years old(27/37, 73 % ) ; the rostro-orbital pseudoforamen in children aged 2 -5 years (9/17, 53%); intrapostsphenoidal pseudoforamen in children 6 -12 years old(20/37, 54%) and spheno-occipital pseudoforamen and intrasynchondral ossified bodies in children aged 13 -16 years. The canalis basilaris medianus was identified in about 20 % of all subjects regardless of age. CONCLUSION: Development of the minute central skull base foramina varied greatly according to age. Knowledge of the CT appearances of such embryologic variants of the central skull base should not only help Provide an understanding of complex skull base anatomy but also identify abnormal skull base development.
Child ; Foramen Magnum ; Humans ; Infant ; Orbit ; Skull Base* ; Skull* ; Tomography, X-Ray Computed