Abstract:
:We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including short stature, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge. The most unusual distressing finding was severe cervical kyphosis with a dysplastic cervical spine. MRI revealed impingement of the upper spinal cord. To clarify the mode of inheritance of this disease in this patient, we performed a methylation-specific PCR analysis. It eventually showed random inactivation of X-chromosomes, suggesting an autosomal dominant trait.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Kondoh T,Yoshinaga M,Matsumoto T,Takayanagi T,Uetani M,Kubota T,Nishimura G,Moriuchi Hdoi
10.1007/s002470100486keywords:
subject
Has Abstractpub_date
2001-09-01 00:00:00pages
659-62issue
9eissn
0301-0449issn
1432-1998journal_volume
31pub_type
杂志文章abstract::The approach to breast masses in children differs from that in adults in many ways, including the differential diagnostic considerations, imaging algorithm and appropriateness of biopsy as a means of further characterization. Most pediatric breast masses are benign, either related to breast development or benign neopl...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-015-3402-0
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Fluoroscopically guided air reduction of intussusception is a well-accepted technique. There are only two previous reports in which US has been used to monitor pneumatic reduction. OBJECTIVE:To assess the ability of US to monitor the success of air reduction of intussusception. MATERIALS AND METHODS:Sonogr...
journal_title:Pediatric radiology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s002470050754
更新日期:2000-05-01 00:00:00
abstract::Hypertension due to transplant renal artery stenosis was treated with percutaneous transluminal angioplasty (PTA) in 6 children. 8 angioplasties were performed and the follow-up period varied between 3 and 66 months (average 23 months). The stenoses were located at the site of anastomosis in 4 children and distal to t...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012999
更新日期:1992-01-01 00:00:00
abstract::We present a case of blow-out fracture of the superomedial orbital wall in a 6-year-old boy. The initial plain radiograph showed an intact orbital margin and opacification of the ethmoid sinus. A fine-cut CT scan of the facial bones revealed a complex fracture of the medial orbital wall extending into the orbital roof...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-009-1280-z
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:A technique for reinsertion of an inadvertently removed tunneled central venous catheter is presented. A 6-year-old boy with short-gut syndrome caused by necrotizing enterocolitis accidentally removed his tunneled central venous catheter. MATERIALS AND METHODS:The existing subcutaneous catheter tract was re...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470050724
更新日期:1999-12-01 00:00:00
abstract::Despite the availability of Doppler ultrasound, angiography still forms part of the protocol for evaluating children after orthotopic liver transplantation (OLT) at our department. To investigate whether Doppler ultrasound is a reliable method for evaluating the patency of the hepatic artery, portal vein, inferior ven...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02015783
更新日期:1995-01-01 00:00:00
abstract::Imaging pediatric elbow trauma in the acute setting remains diagnostically challenging given difficult patient positioning, multiple ossification centers of the pediatric elbow, overlapping structures, and complex joint anatomy. Digital tomosynthesis is a technique where the X-ray source travels across a limited arc a...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-019-04444-y
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:The magnetic resonance imaging (MRI) characteristics of evolving duodenal hematomas in children are unknown. OBJECTIVE:To describe the MRI changes exhibited by evolving duodenal hematomas and the likely mechanisms behind these changes. MATERIALS AND METHODS:We retrospectively reviewed the MR features of in...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-018-4178-9
更新日期:2018-10-01 00:00:00
abstract::In 30 children with renal allografts the diagnostic validity of pulsed Doppler (PD) versus colour coded Doppler (CD) sonography was assessed prospectively. 46 PD examinations were performed calculating the resistive index (RI) in the segmental arteries in comparison to 46 CD scans, where renal blood flow throughout th...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012486
更新日期:1992-01-01 00:00:00
abstract::The discovery of fetal skeletal abnormality on prenatal US mandates an extended study of the fetus. This extended examination includes specific views and measurements of the fetal skeleton. Lethality can be predicted if severe pulmonary hypoplasia is present. Specific diagnosis of a fetal osteochondrodysplasia is diff...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-005-0087-9
更新日期:2006-06-01 00:00:00
abstract::As the need for accurate diagnostic imaging often continues throughout a cancer survivor's life, imaging methods with the least toxicity must be used so as to provide needed information without contributing to long-term sequelae that might compound toxicities inherent with the primary disease and its treatment. In thi...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-011-2108-1
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Inferior vena cava (IVC) filter placement in children has been described in literature, but there is variability with regard to their indications. No nationally representative study has been done to compare practice patterns of filter placements at adult and children's hospitals. OBJECTIVE:To perform a nati...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-017-4001-z
更新日期:2018-02-01 00:00:00
abstract::Two adolescent girls with acquired vaginal occlusion and resultant hematometracolpos are presented. Both are long-term survivors of childhood malignancies, who prior to multiagent chemotherapy and pelvic irradiation had normal uteri by imaging. Both were amenorrheic post therapy. Routine follow-up computed tomography ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02011961
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND:Assessment tools for early cystic fibrosis (CF) lung disease are limited. Detecting early pulmonary disease is crucial to increasing life expectancy by starting interventions to slow the progression of the pulmonary disease with the many treatment options available. OBJECTIVE:To compare the utility of lung ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-020-04638-9
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder. OBJECTIVE:To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations. MATERIALS AND METHODS:A retrospective review...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470000312
更新日期:2000-11-01 00:00:00
abstract::We present an unusual case of severe hydranencephaly in a term infant who presented with the following additional unique features, which were discovered on CT, MRI and MR angiography examinations: (1) occlusion of the bilateral posterior cerebral arteries, (2) absence of the occipital lobes, (3) an ovoid calcified mas...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-010-1894-1
更新日期:2011-02-01 00:00:00
abstract::We describe a 4-year-old girl with an inflammatory pseudotumour of the pancreas, which was preceded by varicella-zoster infection. Inflammatory pseudotumour may involve a variety of tissues, the lungs and liver being typical sites of predilection. Imaging and laboratory tests are nonspecific, and for this reason the d...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470000331
更新日期:2000-11-01 00:00:00
abstract::A calcified thrombus in the inferior vena cava of infants and children may be imaged by computed tomography. The precise location of the calcification within the inferior vena cava may be confirmed by computed tomographic scanning during injection of intravenous contrast material. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF01001751
更新日期:1980-11-01 00:00:00
abstract::A case of thanatophoric dwarfism living for 10 weeks with minimal supportive care is presented. Although early death is usual, survival for months is compatible with the diagnosis. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF00975319
更新日期:1976-12-15 00:00:00
abstract:PURPOSE:This prospective study was designed to determine the effect of patient positioning on sonographic measurements of renal length in children. Materials and methods. Two dedicated pediatric ultrasonographers (observers A and B) measured the sonographic lengths of 48 kidneys in 25 children (two had unilateral renal...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF01372240
更新日期:1996-01-01 00:00:00
abstract::We report an unusual case of a child with a congenital solitary functional kidney complicated by a sports-related posttraumatic Page kidney. The child developed severe hypertension and renal insufficiency requiring percutaneous intervention to preserve renal function. The literature is sparse with no definitive guidel...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-010-1630-x
更新日期:2010-11-01 00:00:00
abstract::Juvenile granulosa cell tumor of the testis is a distinct form of sex cord-stromal tumor of neonates and infants [1]. This tumor comprises a significant percentage of testicular tumors in baby boys. We present a patient who had preoperative imaging studies. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012994
更新日期:1992-01-01 00:00:00
abstract::We report a 6-month-old infant with a fibroblastic ring obstructing her hypopharynx. Surgical myotomy gave relief of symptoms. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02386642
更新日期:1986-01-01 00:00:00
abstract::Peripheral primitive neuroectodermal tumour in the kidney is a rare entity with high malignant potential. The distinctive demographic, clinical and radiological findings, as described in the present case, should suggest this aggressive tumour in the differential diagnosis of renal neoplasms in adolescents. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470000392
更新日期:2001-02-01 00:00:00
abstract::We sonographically investigated the internal jugular veins of 40 children who had undergone catheterization of the vein (group A: silastic catheter, n = 24; group B: polyurethane catheter, n = 16) in the neonatal period. The average age at catheter implantation was 43 +/- 73 days, the average birthweight 2414 +/- 1145...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012737
更新日期:1994-01-01 00:00:00
abstract::Paediatric cerebral sinovenous thrombosis (CSVT) is a rare but serious condition. The imaging signs may be subtle with a number of potential pitfalls. We present a pictorial essay of the pitfalls of diagnosis of CSVT on CT and MRI. We describe, using examples, potential pitfalls on both imaging modalities including an...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-012-2402-6
更新日期:2013-01-01 00:00:00
abstract::The human immunodeficiency virus (HIV) epidemic seems largely controlled by anti-retroviral treatment with resultant large numbers of children growing up with the disease on long-term treatment, placing them at higher risk to develop HIV-related brain injury, ongoing cognitive impairment and treatment-related neurolog...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-018-4310-x
更新日期:2019-05-01 00:00:00
abstract::In a 12 years, 10 months-old-girl with severe nanism we observed bone changes of unusual spondylo-epi-metaphyseal dysplasia (S.E.M.D.). The metaphyseal and epiphyseal changes in the long bones were symmetrical and mostly rhizomelic - with the involvement of the iliac bones, tarsal bones with irregular lesions and disp...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02010826
更新日期:1990-01-01 00:00:00
abstract::A case of vein of Galen aneurysm, studied with a fast gradient refocusing pulse MRI sequence, is presented. Fast MRI sequences allowed the acquisition of additional hemodynamic information that was not available with either routine MRI or angiography. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02013833
更新日期:1993-01-01 00:00:00
abstract:OBJECTIVE:We prospectively surveyed patients with myelomeningocele who presented in our department over a 3-month period to determine the frequency of latex allergy in this population. MATERIALS AND METHODS:A questionnaire assessed history of allergy to latex and attitudes toward and use or avoidance of latex-containi...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF01377199
更新日期:1996-07-01 00:00:00