Abstract：
:Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Unger SL,Briggs MD,Holden P,Zabel B,Ala-Kokko L,Paassilta P,Lohiniva J,Rimoin DL,Lachman RS,Cohn DHdoi
10.1007/s002470000362keywords:
subject
Has Abstractpub_date
2001-01-01 00:00:00pages
10-8issue
1eissn
0301-0449issn
1432-1998journal_volume
31pub_type
杂志文章abstract：:This multicenter collaborative study was undertaken to review the types and complications of femoral neck fractures in children. It is a retrospective clinical and radiological review of 108 femoral neck fractures. Cases originated from four different pediatric hospitals. All the patients had plain radiographs. Fractu...
journal_title：Pediatric radiology
pub_type： 杂志文章,多中心研究
doi：10.1007/BF02012436
更新日期：1993-01-01 00:00:00
abstract：:Ureteral valves are an uncommon cause of upper urinary tract obstruction. The majority of cases are discovered only at surgery or autopsy. We report a case diagnosed by antegrade pyelography under sonographic guidance and we review the literature. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02388420
更新日期：1988-01-01 00:00:00
abstract：:Congenital cardiac malformations (CCM) are the commonest congenital anomalies. Using ultrasonography (US), the incidence of CCM in a selected group of fetuses and the impact of CCM on perinatal and postnatal care was evaluated. The indication for fetal echocardiography (F-ECHO) in 152 pregnancies was a positive family...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02387894
更新日期：1989-01-01 00:00:00
abstract：:Patients with cat-scratch disease (CSD) may develop visceral manifestations such as hepatic and splenic granulomas. Normally, the granulomas disappear within 1-5 months. Two previous reports have described the evolution of splenic lesions into small calcifications. We report a case of cat-scratch disease in which long...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02012123
更新日期：1994-01-01 00:00:00
abstract：BACKGROUND:Hepatic involvement is frequent in patients with cystic fibrosis (CF), with focal biliary cirrhosis being the pathognomonic hepatic manifestation. In around one-quarter of CF patients, it results in CF-associated liver disease (CFLD). This occurs as a relatively early complication with the majority of patien...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-009-1531-z
更新日期：2010-07-01 00:00:00
abstract：:A 10-year-old girl presented with a cerebral malignant ectomesenchymoma (MEM), a very unusual tumour with undifferentiated mesenchymal as well as ectodermal elements. Somatostatin receptor scintigraphy (SRS) was performed during the diagnostic workup. The recurrent residual tumour mass was exactly visualized with SRS,...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470000404
更新日期：2001-03-01 00:00:00
abstract：:A case of Darrow-Gamble disease is presented with review of the radiographic and ultrasonographic appearance of this rare cause of profound chronic diarrhea beginning at birth. The disease is caused by a defect of active intestinal chloride transport which results in a large loss of the electrolytes and water. To prev...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02020230
更新日期：1993-01-01 00:00:00
abstract：:Machine learning algorithms can help to improve the accuracy and efficiency of cancer diagnosis, selection of personalized therapies and prediction of long-term outcomes. Artificial intelligence (AI) describes a subset of machine learning that can identify patterns in data and take actions to reach pre-set goals witho...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-019-04360-1
更新日期：2019-10-01 00:00:00
abstract：BACKGROUND:The expected MRI-based dimensions of the intracranial optic nerve and optic tract in neonates are unknown. OBJECTIVE:To evaluate the sizes of the intracranial optic nerve and optic tract in neonates at term-equivalent age using MRI. MATERIALS AND METHODS:We retrospectively analyzed brain MRI examinations i...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-015-3495-5
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND:Stress fractures of many etiologies are found not infrequently in various tarsal bones but are less commonly recognized in carpal bones. OBJECTIVE:To assess the distribution of tarsal and carpal stress fractures. MATERIALS AND METHODS:During the last three decades, the senior author collected locations of ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-010-1577-y
更新日期：2010-08-01 00:00:00
abstract：:The risks associated with total splenectomy, including overwhelming postsplenectomy infection, have led to an interest in the use of partial splenectomy as an alternative surgical option for children with congenital hemolytic anemias and hypersplenism. Partial splenectomy, a procedure designed to remove enough spleen ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-009-1519-8
更新日期：2010-07-01 00:00:00
abstract：:Paediatric post-traumatic cortical defects, although rare, are predominately seen affecting the distal radius following a greenstick or torus fracture. We review the literature and present a further two cases supported by CT and MRI. Images from an acute greenstick fracture are also presented to help understand the pa...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-001-0608-0
更新日期：2002-05-01 00:00:00
abstract：:Two cases of neonatal spontaneous rupture of the esophagus are described, one of which is associated with a duodenal stenosis. Seventeen cases have been reported. They present clinically with non-specific signs of respiratory insufficiency and radiologically by a right-sided hydropneumothorax. Esophageal opacification...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02386871
更新日期：1986-01-01 00:00:00
abstract：BACKGROUND:Transient synovitis is the most common cause of acute hip pain in children. However, MR imaging findings in transient synovitis and the role of MR imaging in differentiating transient synovitis from septic arthritis have not been fully reported. OBJECTIVE:To describe the MR findings of transient synovitis a...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-006-0289-9
更新日期：2006-11-01 00:00:00
abstract：BACKGROUND:Currently, there is only limited and contradictory evidence of the role of diffusion-weighted MRI (DW-MRI) in the management of children with cholesteatoma. OBJECTIVE:To provide surgically controlled data that may allow to replace second-look surgery by non-echoplanar DW-MRI in children. MATERIALS AND METH...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-015-3287-y
更新日期：2015-07-01 00:00:00
abstract：:We present a case of herpes simplex encephalitis in an 8-year-old girl, in whom hyperintensity was detected on diffusion-weighted imaging (DWI) while conventional MRI sequences were normal 1 week after the onset of neurological symptoms. This case is rare in that a child beyond the neonatal period with focal herpes si...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-007-0577-z
更新日期：2007-11-01 00:00:00
abstract：:Seventy-five premature infants weighing between 600 and 3200 g were studied over a period of 1 year. All of the infants received surfactant therapy for hyaline membrane disease immediately after birth and, thereafter, up to four doses every 6 h. The roentgenographic findings in all patients were documented at birth an...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF01372230
更新日期：1996-01-01 00:00:00
abstract：:Imaging studies for sinusitis add little to the clinical management of the pediatric patient in most instances. The findings shown by paranasal sinus imaging are nonspecific and need to be correlated with clinical findings. Coronal CT is recommended for complications or for recurrent or persistent sinus disease. ...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s002470050251
更新日期：1997-11-01 00:00:00
abstract：:Neuromuscular hamartoma (also referred to as neuromuscular choristoma or benign triton tumour) has not previously been described in the radiological literature. It is a rare benign lesion composed of mature elements of striated muscle and neural tissue. We report a case of neuromuscular hamartoma involving the skull b...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-002-0788-2
更新日期：2003-01-01 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：:Osteoporosis is a generalised disorder of the skeleton with reduced bone density and abnormal bone architecture. It increases bone fragility and renders the individual susceptible to fractures. Fractures of the vertebrae are common osteoporotic fractures. Vertebral fractures may result in scoliosis or kyphosis and, be...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-018-4279-5
更新日期：2019-03-01 00:00:00
abstract：BACKGROUND:Glutaric aciduria type 1 is a rare neurometabolic disease with high morbidity. OBJECTIVE:To describe the MR imaging abnormalities in glutaric aciduria type 1 and to identify any association between the clinical and imaging features. MATERIALS AND METHODS:MRI scans of 29 children (mean age: 16.9 months) wit...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-015-3395-8
更新日期：2015-10-01 00:00:00
abstract：:We describe the ultrasonography, the contrast-enhanced computed tomography and the magnetic resonance imaging of subcutaneous fat necrosis in a newborn infant. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-005-0086-x
更新日期：2006-04-01 00:00:00
abstract：:Testicular teratoma is a rare tumor in children. We recently encountered two boys, aged 18 months and 2 years respectively, with this tumor. Sonography revealed an intratesticular mass in both. The first revealed a predominantly cystic lesion with echogenic components along its wall. The second showed a complex mass o...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02011304
更新日期：1992-01-01 00:00:00
abstract：:A five year old girl presented with short femora, cupped distal metaphyses and flexion deformity of the knees suggesting previous epiphyseo-metaphyseal damage. The aetiology was suggested by finding a history of previous infantile scurvy with separated distal femoral epiphyses. The rarity of this complication and poss...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF00973956
更新日期：1976-02-13 00:00:00
abstract：:Pseudoaneurysms (PAn) are uncommon in adults and even less common in children. They are most often encountered after iatrogenic arterial injury. Presentation may be substantially delayed after the iatrogenic event, and diagnosis can be difficult, especially when the PAn occurs in an unexpected location. Treatment of P...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s00247-004-1320-7
更新日期：2005-04-01 00:00:00
abstract：:We present a child with a rapidly growing mass and lytic skull lesion that on pathologic evaluation was diagnosed as cranial fasciitis. This disease entity is not widely known by radiologists, and should be included in the differential diagnosis of lytic skull lesions. ...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02011971
更新日期：1993-01-01 00:00:00
abstract：:The authors report the case of a 9-year-old child which suffered from a chondroblastoma of the cervical spine. He had clinical signs of superior mediastinum compression with inflammation of the respiratory upper air-way. Surgery was performed. Diagnosis was established by the pathologist. The recurrence one year later...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/BF02396616
更新日期：1987-01-01 00:00:00
abstract：OBJECTIVE:To assess the value of head ultrasound (HUS) in neurologically normal infants with macrocephaly and to develop a rational approach to radiological investigation of macrocephalic infants. MATERIALS AND METHODS:A retrospective analysis of infants with macrocephaly (seen by one pediatric neurologist at this ins...
journal_title：Pediatric radiology
pub_type： 杂志文章
doi：10.1007/s002470050315
更新日期：1998-03-01 00:00:00
abstract：:As the number of patients with liver transplants continues to increase, radiologists need to be aware of the normal post-operative appearance of the different liver transplants currently performed along with the wide variety of complications encountered. The complications commonly affect the biliar and vascular system...
journal_title：Pediatric radiology
pub_type： 杂志文章,评审
doi：10.1007/s00247-010-1545-6
更新日期：2010-04-01 00:00:00
