Abstract:
:Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the "coat-hanger" configuration of the ribs on the chest radiograph), suggested a diagnosis of patUPD14, which was confirmed following DNA analysis. The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Offiah AC,Cornette L,Hall CMdoi
10.1007/s00247-003-0931-8keywords:
subject
Has Abstractpub_date
2003-07-01 00:00:00pages
509-12issue
7eissn
0301-0449issn
1432-1998journal_volume
33pub_type
杂志文章,评审abstract::Primary idiopathic chylopericardium is rare and represents a fraction of all pericardial effusions in the pediatric population. Most cases of chylopericardium occur as a complication of cardiac surgery or after trauma. They may also be caused by tuberculosis, neoplasm, or congenital lymphangiomatosis. Primary idiopath...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-003-0885-x
更新日期:2003-05-01 00:00:00
abstract::Chylous reflux is a manifestation of primary or secondary lymphatic obstruction. Primary lymphatic obstruction is defined as lymphangiectasia and incompetency of lymphatic valves without an underlying cause. Lymphangiectasia resulting from trauma, neoplasm, irradiation, or inflammation characterizes secondary lymphati...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470050219
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:Resistivity index (RI) of the pericallosal artery as is commonly measured during head ultrasound (US) examination in neonates. Some studies have shown that RI measured with gentle compression of the fontanelle provides additional information in cases of neonatal brain anomalies. OBJECTIVE:The purpose of thi...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-019-04347-y
更新日期:2019-05-01 00:00:00
abstract::We used the fast field-echo technique of magnetic resonance (MR) imaging with an intravenous bolus injection of paramagnetic contrast agent to evaluate glomerular function. The time-dependent curves of changes in signal intensity observed in the renal cortex and renal medulla brought about by the paramagnetic contrast...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF01395707
更新日期:1996-01-01 00:00:00
abstract:PURPOSE:A retrospective study was carried out in order to determine the role of sonography in establishing the diagnosis in extremity osteomyelitis. MATERIALS AND METHODS:The imaging documents of 24 infants and children aged from 2 weeks to 13 years with osteomyelitis (acute 21, chronic 3) were reviewed. Sonograms and...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF01372116
更新日期:1996-01-01 00:00:00
abstract::The diagnosis of an atypical pneumomediastinum in a newborn was confirmed by ultrasound where an echogenic rim of air was noted around the heart. Ultrasound is suggested as an alternative to a decubitus film in differentiating between a pneumomediastinum (which usually resolves spontaneously) and a medial pneumothorax...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02013517
更新日期:1992-01-01 00:00:00
abstract::Ectopic thyroid gland is a well-known developmental anomaly. We present a child with a unique anatomical variant of this anomaly, namely double ectopic thyroid. The purpose of this report is to demonstrate the scintigraphic findings and to emphasize the importance of performing a thyroid scan in every case of thyroid ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-002-0787-3
更新日期:2002-12-01 00:00:00
abstract::Aspergillus is the most common fungal infectious pathogen in immunocompromised individuals, but the diagnosis is hard to obtain. In a patient with spinal cord involvement, MRI proved to be excellent. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02013175
更新日期:1990-01-01 00:00:00
abstract::A case of the Hajdu-Cheney syndrome in a 15 year old boy is described. The manifestations were: 1. isiopathic progressive acro-osteotions; 2. mutiple cranio-skeletal abnormalities; and 3. polycystic kidneys complicated by a rapidly progressive glomerulonephritis. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF00973535
更新日期:1977-09-01 00:00:00
abstract::Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) offer several techniques to evaluate the hepatic vasculature. These techniques are briefly reviewed with reference to the pediatric population. Examples of MRI and MRA in the evaluation of the hepatic vasculature in pediatric patients are presen...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470050581
更新日期:1999-04-01 00:00:00
abstract::Gorham's disease may develop in any region of the skeleton, but shows a predilection for the bones of the shoulders and pelvic girdles. Less frequently, the disease may involve the spine, and it is the proximity to the spinal cord which may worsen the patient's outcome. We report the clinical outcomes of two children ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012113
更新日期:1994-01-01 00:00:00
abstract::In order to evaluate the role of gadolinium-DOTA enhanced MRI in the management of painful osseous crises in children with sickle cell anemia (SCA), nine children with SCA underwent MRI, bone scans and ultrasonographic studies during 11 osseous crises. Imaging findings were compared with the final diagnosis: three acu...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02020160
更新日期:1994-01-01 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::A pseudocyst developed in a child following acute pancreatitis and spontaneously drained into the common bile duct, a rare occurrence previously described only in adults. The imaging findings are similar to those of a choledochal cyst; serial sonograms enabled diagnosis by documenting evolution of the lesion and shoul...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF01625964
更新日期:1983-01-01 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 report a rare case of cystic metastases to the liver from a peripheral primitive neuroectodermal tumour in a child. Ultrasound and CT appearances are described with a discussion on the histological findings and the differential diagnosis. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470000347
更新日期:2000-12-01 00:00:00
abstract:BACKGROUND:Ipsilateral deviation of the uterus (IDU) has been suggested to be specific for torsion. OBJECTIVE:To investigate the sensitivity and specificity of IDU in diagnosing torsion. MATERIALS AND METHODS:We retrospectively reviewed the pelvic US examinations in girls performed at Nationwide Children's Hospital i...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-009-1172-2
更新日期:2009-04-01 00:00:00
abstract::We report two cases of pancreatic pseudocysts in children developing after blunt trauma to the abdomen. Gray-scale echography provides a safe and exact method in establishing the diagnosis and in the follow-up of the disease. In one case the pancreatic pseudocyst resolved spontaneously justifying our opinion that not ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF00971784
更新日期:1981-01-01 00:00:00
abstract::Most pediatric malignancies require some form of cross-sectional imaging, either for staging or response assessment. The majority of these are solid tumors and this review addresses the role of MRI, as well as other cross-sectional and functional imaging techniques, for evaluating the most common pediatric solid tumor...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-018-4162-4
更新日期:2018-08-01 00:00:00
abstract::Burkitt lymphoma presenting as a peritoneal and small thickening problem mimicking carcinomatosis is very rare. We present a previously healthy 7-year-old boy with a 1-week history of worsening abdominal distention, vomiting and melena. He demonstrated liver nodules, but no pathologic chest or abdominal adenopathy was...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-008-1063-y
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVE:Unenhanced MRI has emerged as a useful tool for diagnosing pediatric acute appendicitis. The use of contrast-enhanced MRI for diagnosing pediatric appendicitis has not been documented. The purpose of this study is to examine the diagnostic performance of contrast-enhanced MRI for acute appendicitis and altern...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-014-2952-x
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Influenza A (H1N1) can cause severe neurological complications. OBJECTIVE:The purpose of this study was to analyze clinical and MRI features of neurological complications after H1N1 infection in critically ill children. MATERIALS AND METHODS:We retrospectively analyzed clinical and neuroimaging findings in...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-013-2682-5
更新日期:2013-09-01 00:00:00
abstract::Magnetic resonance (MR) images of 12 pathologically proven lesions of Langerhans cell histiocytosis (LCH) of bone were reviewed retrospectively. MR identified all lesions, three of which were not identified on plain radiographs. In all cases, MR showed greater abnormality than did plain radiographs. With one exception...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02017655
更新日期:1994-01-01 00:00:00
abstract::Glenoid dysplasia is an anomaly of the scapula characterized by underdevelopment of the bony glenoid and adjacent part of the scapular neck which may be seen as a primary isolated condition, in patients with multiple anomalies or ill-defined syndromes, in well-described syndromes, in mucopolysaccharidoses and related ...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s002470050287
更新日期:1998-01-01 00:00:00
abstract::The multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) was created to unify the language used to describe urinary tract dilation on antenatal and postnatal ultrasound examinations and thereby facilitate communication among providers and improv...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-017-3883-0
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Many intervention studies in preterm infants aim to improve neurodevelopmental outcome, but short-term proxy outcome measurements are lacking. Cortical plate and subplate development could be such a marker. OBJECTIVE:Our aim was to provide normal DTI reference values for the cortical plate and subplate of p...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-010-1638-2
更新日期:2010-08-01 00:00:00
abstract::Primary aldosteronism in children under 16 years of age is usually due to adrenal hyperplasia. We could find only seven cases in the literature where it was caused by a solitary adrenal adenoma; all but one were female. We describe the case of a 10-year-old Caucasian boy in whom a unilateral adrenal adenoma was demons...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02387519
更新日期:1986-01-01 00:00:00
abstract::To evaluate cystourethrography in the era of fetal screening, we evaluated retrospectively the clinical and imaging findings of all children up to the age of 1 year who underwent a cystourethrogram in a 5-year period (1987-1992). There were 292 children, 64 neonates (< 1 month, 51 boys, 13 girls) and 228 infants (1 mo...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02015017
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Osteomyelitis is a challenging diagnosis for clinicians, particularly in very young children. At our institution, the magnetic resonance imaging (MRI) protocol in suspected osteomyelitis for children 5 years of age or younger includes a large field of imaging regardless of the clinical site of concern. OBJE...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-018-4317-3
更新日期:2019-03-01 00:00:00
abstract::A newborn suffered immediate neonatal respiratory distress because of an obstructive, soft-tissue nasal mass. Clinical examination revealed a cleft palate with a protruding polypoid mass. CT and MRI showed a heterogeneous nasopharyngeal mass and associated intracranial abnormalities - duplication of the hypophysis and...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s002470050354
更新日期:1998-05-01 00:00:00