Abstract:
:Many heritable disorders of the skeleton are transmitted as autosomal recessive (AR) traits. During the past two decades, family studies have been undertaken in conditions of this type in order to detect any structural manifestations in obligate and potential heterozygotes. The positive findings that emerge from this long-term investigation are reported. In numerous other AR skeletal disorders family investigations failed to reveal any significant abnormalities in relatives of affected persons. A review of the literature elicited additional examples of heterozygote manifestation. The skeletal abnormalities in the heterozygotes are usually inconsistent and often innocuous, but they have a number of important implications: (a) identification of heterozygotes for family screening or for genetic counseling; (b) identification of heterozygotes for conventional and molecular linkage studies; (c) problems with pedigree analysis; variable expression of an autosomal dominant trait versus heterozygous manifestations in an AR disorder; (d) problems with diagnosis, e. g., does a congenital Madelung anomaly always represent the heterozygous form of Langer mesomelic dysplasia? What proportion of persons with isolated brachydactyly are heterozygotes for Grebe chondrodysplasia? It is likely that close scrutiny of first-degree relatives of persons with other AR skeletal disorders will reveal examples of heterozygous manifestations.
journal_name
Pediatr Radioljournal_title
Pediatric radiologyauthors
Beighton Pdoi
10.1007/s002470050155subject
Has Abstractpub_date
1997-05-01 00:00:00pages
397-401issue
5eissn
0301-0449issn
1432-1998journal_volume
27pub_type
杂志文章,评审abstract::Intramuscular myxoma (IM) is a true mesenchymal benign tumour which is rare in both adults and children. In children, it most commonly affects the heart, mandible or maxilla. We report a 5-year-old child with IM presenting as a posterolateral neck mass and review the literature. IM, although very rare, should be inclu...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-001-0603-5
更新日期:2002-02-01 00:00:00
abstract::Radiographic differentiation between cystic fibrosis and asthma presenting in teenagers and young adults can be difficult. Many patients with a late presentation of cystic fibrosis display minimal changes on a chest radiograph. However, a large majority (90%) of cystic fibrosis patients with an essentially normal PA c...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02388758
更新日期:1985-01-01 00:00:00
abstract::The question of radiological mass screening for congenital dislocated hip is still debated. We have tried to evaluate the cost-benefit ratio of radiological detection at the age of 3-4 months, taking into account the socio-economic cost and radiation risk. Assuming a frequency of this disorder of 1% the average cost o...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02343430
更新日期:1984-01-01 00:00:00
abstract:BACKGROUND:A hernia is due to a defect in the diaphragm. An eventration is due to a thinned diaphragm with no central muscle. Distinguishing right diaphragmatic hernia from eventration on chest radiographs can be challenging if no bowel loops are herniated above the diaphragm. Experience is limited with postnatal ultra...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-019-04417-1
更新日期:2019-07-01 00:00:00
abstract::The need for X-ray investigations of the urinary tract at the time of the first proven urinary infection, even in older girls, is stressed. This policy is the best way to detect chronic pyelonephritis and congenital anomalies of the urinary tract and provide timely and appropriate treatment. These conclusions are supp...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF00972109
更新日期:1977-10-28 00:00:00
abstract::We report an atypical leiomyoma arising in an hepatic vein and extending into the inferior vena cava and right atrium in a fourteen year old boy. US, CT and MRI facilitated diagnosis and removal of this tumor. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02012978
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:Demand for pediatric cardiac computed tomography (CT) angiography is increasing due to recent advances that reduce the need for sedation and radiation exposure while enhancing diagnostic accuracy. This has resulted in the increasing use of cardiac CT angiography emergently during weekends and after hours. Th...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-020-04659-4
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND:Phalangeal microgeodic syndrome is an uncommon benign self-limiting condition that often occurs during cold weather. The etiology and the pathogenesis of the disease remain unclear. OBJECTIVE:To report a series of children with phalangeal microgeodic syndrome. MATERIALS AND METHODS:Twenty children with pha...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-018-4137-5
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:Knowledge of normal appearances of the temporomandibular joint (TMJ) is paramount when assessing the joint for disease in juvenile idiopathic arthritis. Reliable features defining normal TMJs in children are limited. OBJECTIVE:To establish reliable normal standards for the TMJ at magnetic resonance imaging ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-017-4048-x
更新日期:2018-03-01 00:00:00
abstract:BACKGROUND:The classic metaphyseal lesion (CML) is highly specific for non-accidental trauma in infants. While the radiographic findings are well documented, there is little literature on the ultrasound (US) appearance. OBJECTIVE:To evaluate US findings in CMLs identified on radiographs. MATERIAL AND METHODS:This ins...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-019-04373-w
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Traditionally, every patient with an acute scrotum needed surgical exploration for definitive exclusion of testicular torsion. OBJECTIVE:In this study, we aimed to evaluate the improved accuracy in clinical diagnosis with colour Doppler Ultrasonography (US) added to normal clinical assessment. MATERIALS AN...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-005-1411-0
更新日期:2005-06-01 00:00:00
abstract:BACKGROUND:Knowledge of ovarian volume is important for diagnostic evaluations; however, normal ovarian volume studies on children and adolescents are lacking. OBJECTIVE:This study aimed to analyze age-specific ovarian volume and identify the diverse factors that contribute to ovarian diagnoses. MATERIALS AND METHODS...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-019-04469-3
更新日期:2019-09-01 00:00:00
abstract::Developmental stenosis of the cervical spine results in a reduction of the caliber of the cervical spinal canal that is greatest in the anteroposterior dimensions. This usually becomes symptomatic in adults when a myelopathy may result from compression of the cervical cord by small osteophytes or by hyperextension inj...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02388241
更新日期:1987-01-01 00:00:00
abstract::Pseudotumoral cystitis is an unusual lesion and since it may be confused with rhabdomyosarcoma, knowledge of its existence is important. We report eight cases. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract::Primitive malignant renal tumours comprise 6% of all childhood cancers. Wilms tumour (WT) or nephroblastoma is the most frequent type accounting for more than 90%. Imaging alone cannot differentiate between these tumours with certainty but it plays an important role in screening, diagnostic workup, assessment of thera...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-010-1584-z
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:Different iterative reconstruction techniques are available for use in pediatric computed tomography (CT), but these techniques have not been systematically evaluated in infants. OBJECTIVE:To determine the effect of iterative reconstruction on diagnostic performance, image quality and radiation dose in infa...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-015-3281-4
更新日期:2015-07-01 00:00:00
abstract::The CT appearance of oropharyngeal tularemia in a 3 1/2 year-old boy is described. Tularemia should be considered in the differential diagnosis of massive adenotonsillar enlargement and extensive necrotic cervical adenopathy. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02075217
更新日期:1990-01-01 00:00:00
abstract::Shaken baby syndrome/abusive head trauma is a leading cause of morbidity and mortality in infants. The presence of a diffuse subdural hematoma without evidence of accident is a key diagnostic clue. The hematoma is typically attributed to rupture of the cerebral bridging veins due to violent shaking, with or without im...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-014-3171-1
更新日期:2014-12-01 00:00:00
abstract::Gastrointestinal tract duplications are relatively uncommon in the paediatric age group. This is a report of an infant who had a tubular duplication of the jejunum which extended into the thoracic cavity via the aortic hiatus of the diaphragm. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02015363
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:Preterm and low-birth-weight infants have an increased risk of sensorineural hearing loss. Brainstem auditory-evoked potentials (BAEP) are an effective method to detect subtle deficits in impulse conduction in the auditory pathway. Abnormalities on diffusion tensor imaging (DTI) have been shown to be associa...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-009-1278-6
更新日期:2009-08-01 00:00:00
abstract::Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matt...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-005-1495-6
更新日期:2005-10-01 00:00:00
abstract:BACKGROUND:Ultrasound has been utilized in the evaluation of compressive and traumatic peripheral nerve pathology. OBJECTIVE:To determine whether US can provide comprehensive evaluation of the post-ganglionic brachial plexus in the setting of neonatal brachial plexus palsy and whether this information can be used to g...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-015-3524-4
更新日期:2016-05-01 00:00:00
abstract::Three-dimensional printing called rapid prototyping, a technology that is used to create physical models based on a 3-D computer representation, is now commercially available and can be created from CT or MRI datasets. This technical innovation paper reviews the specific requirements and steps necessary to apply biome...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-013-2788-9
更新日期:2014-02-01 00:00:00
abstract::The aim of this review is to emphasize the role of fetal MR in the evaluation of the supratentorial space. The advantages of MRI compared to US are stressed in three fields of application: cerebral biometry, sulcation and cerebral parenchyma. In each field, normal data are displayed and MR applications with patterns o...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-004-1249-x
更新日期:2004-09-01 00:00:00
abstract::Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identifie...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-015-3523-5
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND:Patient organ doses may be estimated from CTDI values. More accurate estimates may be obtained by measuring KERMA (Kinetic Energy Released in Matter) in anthropomorphic phantoms and referencing these values to free-in-air X-ray intensity. OBJECTIVE:To measure KERMA ratios (R(K)) in pediatric phantoms at CT....
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-011-2336-4
更新日期:2012-05-01 00:00:00
abstract::Lymphadenopathy of the head and neck region is a common finding in children and a very common reason to image the craniocervical region. Enlarged lymph nodes are commonly palpated by the pediatrician in the office and commonly imaged by the pediatric radiologist. The difficult task of the clinician is to determine whe...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-009-1250-5
更新日期:2009-08-01 00:00:00
abstract::Mass-like renal lesions in children occur in a diverse spectrum of conditions including benign and malignant neoplasm, infection, infarction, lymphatic malformation, and traumatic injury. Although mass-like renal lesions can sometimes be suspected on plain radiographs and evaluated with US in children, subsequent CT i...
journal_title:Pediatric radiology
pub_type: 杂志文章,评审
doi:10.1007/s00247-007-0548-4
更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:Various reports support the use of cervical spine (c-spine) CT over conventional radiography in screening of c-spine injury. Interest now exists in diagnostic radiation-induced morbidity. OBJECTIVE:To estimate excess relative risk for developing cancer from c-spine high-resolution CT radiation exposure. MA...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/s00247-007-0728-2
更新日期:2008-06-01 00:00:00
abstract::A rare, elusive, mobile, pedunculated nasopharyngeal tumor in a neonate is described. The child was only intermittently symptomatic and the diagnosis was not made until 1 month of age. ...
journal_title:Pediatric radiology
pub_type: 杂志文章
doi:10.1007/BF02389013
更新日期:1988-01-01 00:00:00