Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study.

Abstract:

OBJECTIVE:To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. MATERIALS AND METHODS:Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). RESULTS:We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). CONCLUSIONS:Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Stempfle N,Huten Y,Fredouille C,Brisse H,Nessmann C

doi

10.1007/s002470050675

keywords:

subject

Has Abstract

pub_date

1999-09-01 00:00:00

pages

682-8

issue

9

eissn

0301-0449

issn

1432-1998

pii

90290682.247

journal_volume

29

pub_type

杂志文章
  • Kidney dimensions in ultrasound compared to somatometric parameters in normal children.

    abstract::In 196 children aged between 4 weeks and 16 2/12 years a sonographic investigation of kidneys was performed and put into relation to somatometric data including bodyweight (BW) bodylength (BL), length of the trunk and the upper and the lower limb, breadth of thorax and pelvic, head circumference, maximum cranial lengt...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/BF02388240

    authors: Dremsek PA,Kritscher H,Böhm G,Hochberger O

    更新日期:1987-01-01 00:00:00

  • Granulocytic sarcoma presenting with necrotic cervical lymph nodes as an initial manifestation of childhood leukaemia: imaging features.

    abstract::We present two cases of granulocytic sarcoma of the cervical lymph nodes with central necrosis as an initial manifestation of childhood leukaemia, focusing on the imaging features. Recognition of the CT and MR imaging findings of granulocytic sarcoma involving the cervical lymph nodes assists the differential diagnosi...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-008-0748-6

    authors: An SB,Cheon JE,Kim IO,Kim WS,Ahn HS,Shin HY,Kang HJ,Yeon KM

    更新日期:2008-06-01 00:00:00

  • Ultrasound evaluation of right diaphragmatic eventration and hernia.

    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

    authors: Karmazyn B,Shold AJ,Delaney LR,Brown BP,Marine MB,Jennings SG,Gray BW

    更新日期:2019-07-01 00:00:00

  • About one case of vertebral chondroblastoma.

    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

    authors: Hoeffel JC,Brasse F,Schmitt M,Plenat F,Vignaud JM,Czorny A,Montaut J,Marchal AL

    更新日期:1987-01-01 00:00:00

  • Nomograms of total renal volume, urinary bladder volume and bladder wall thickness index in 3,376 children with a normal urinary tract.

    abstract:BACKGROUND:We have previously shown that urinary bladder volume index (BVI = length x width x depth of bladder) and bladder volume wall thickness index (BVWI = BVI at full bladder/average bladder wall thickness) are useful indicators of bladder dysfunction in children with enuresis and urinary tract infection. These in...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-006-0376-y

    authors: Leung VY,Chu WC,Yeung CK,Sreedhar B,Liu JX,Wong EM,Metreweli C

    更新日期:2007-02-01 00:00:00

  • Intracranial calcifications in childhood: Part 1.

    abstract::This article is the first of a two-part series on intracranial calcification in childhood. Intracranial calcification can be either physiological or pathological. Physiological intracranial calcification is not an expected neuroimaging finding in the neonatal or infantile period but occurs, as children grow older, in ...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-020-04721-1

    authors: Gonçalves FG,Caschera L,Teixeira SR,Viaene AN,Pinelli L,Mankad K,Alves CAPF,Ortiz-Gonzalez XR,Andronikou S,Vossough A

    更新日期:2020-09-01 00:00:00

  • Pancreatic pseudocyst drainage in children by image-guided cystogastrostomy and stent insertion.

    abstract:BACKGROUND:Endoscopic ultrasound is seldom available at paediatric centres; therefore drainage of pancreatic pseudocysts in children has traditionally been achieved by surgery. OBJECTIVE:This study assessed the feasibility and safety of performing image-guided internal drainage of pancreatic pseudocysts with a flanged...

    journal_title:Pediatric radiology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00247-019-04471-9

    authors: Patel PA,Gibson C,Minhas KS,Stuart S,De Coppi P,Roebuck DJ

    更新日期:2019-12-01 00:00:00

  • MR imaging of transient synovitis: differentiation from septic arthritis.

    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

    authors: Yang WJ,Im SA,Lim GY,Chun HJ,Jung NY,Sung MS,Choi BG

    更新日期:2006-11-01 00:00:00

  • Contrast-enhanced magnetic resonance angiography for the detection of crossing renal vessels in children with symptomatic ureteropelvic junction obstruction: comparison with operative findings.

    abstract:BACKGROUND:Crossing renal vessels (CRV) are associated with ureteropelvic junction (UPJ) obstruction, particularly when presentation is beyond the neonatal period. Their presence may influence surgical management. OBJECTIVE:To evaluate the accuracy of contrast-enhanced magnetic resonance angiography (CE-MRA) in the id...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-007-0416-2

    authors: Calder AD,Hiorns MP,Abhyankar A,Mushtaq I,Olsen OE

    更新日期:2007-04-01 00:00:00

  • Documentation of spontaneous reduction of childhood intussusception by ultrasound.

    abstract::Spontaneous reduction of a presumed ileo-colonic intussusception was demonstrated by ultrasound examination followed by a barium enema. No premedication or anesthetic had been given to the child. This case illustrates the possible natural history of intussusception rarely confirmed by imaging studies. Intussusception ...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/BF02013178

    authors: Morrison SC,Stork E

    更新日期:1990-01-01 00:00:00

  • Glutaric aciduria type 1: neuroimaging features with clinical correlation.

    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

    authors: Mohammad SA,Abdelkhalek HS,Ahmed KA,Zaki OK

    更新日期:2015-10-01 00:00:00

  • Receptor imaging of pediatric tumors: clinical practice and new developments.

    abstract::Pediatric cancers often have specific molecular fingerprints making them primary candidates for the development of targeted imaging techniques. Tumor-targeted tracers have the potential to substantially advance the sensitivity and specificity of imaging techniques by improving tumor detection and characterization. Thi...

    journal_title:Pediatric radiology

    pub_type: 杂志文章,评审

    doi:10.1007/s00247-008-0878-x

    authors: Daldrup-Link HE,Hawkins RA,Meier R,Goldsby RE,Artemov D

    更新日期:2008-11-01 00:00:00

  • An unusual thoracic duplication arising below the diaphragm.

    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

    authors: Haliloglu M,Besim A,Hicsonmez A

    更新日期:1992-01-01 00:00:00

  • Barium meal examination of infants under 4 months of age presenting with vomiting. A review of 100 cases.

    abstract::One hundred barium meal examinations performed on infants of less than 4 months of age are reviewed. All the infants presented with vomiting as a major symptom and the diagnosis remained in doubt following the initial clinical assessment. Fifty seven per cent of the examinations showed an abnormality of which 45% were...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/BF01625813

    authors: Arthur RJ,Ziervogel MA,Azmy AF

    更新日期:1984-01-01 00:00:00

  • CT of intussusception in the pediatric patient: diagnosis and pitfalls.

    abstract::Intussusception in the pediatric patient may have a varied clinical presentation depending on its location, presence of lead point, intermittent occurrence, or underlying systemic disease. Computed tomography (CT) may be used at times in the evaluation of children with complicated presentations. The purpose of this in...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/BF01403699

    authors: Cox TD,Winters WD,Weinberger E

    更新日期:1996-01-01 00:00:00

  • Bowel wall thickening in infants with food allergy.

    abstract:BACKGROUND:Food allergy may be partly due to impairment of the intestinal barrier and is frequently associated with atopic dermatitis (AD) in early life. OBJECTIVE:To determine whether bowel wall thickening, as demonstrated by US, is useful for the identification of food allergy. MATERIALS AND METHODS:We used US to s...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-001-0593-3

    authors: Kino M,Kojima T,Yamamoto A,Sasal M,Taniuchi S,Kobayashi Y

    更新日期:2002-01-01 00:00:00

  • Ultrasound of a torsed ovary: characteristic gray-scale appearance despite normal arterial and venous flow on Doppler.

    abstract:BACKGROUND:We present the case of an 8-year-old girl with acute onset of intermittent lower abdominal pain. The gray-scale US examination showed an enlarged right ovary with peripheral cysts, reflecting ovarian congestion and strongly suggesting the diagnosis of torsion. Normal arterial and venous flow, however, was fo...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-002-0739-y

    authors: Hurh PJ,Meyer JS,Shaaban A

    更新日期:2002-08-01 00:00:00

  • Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification.

    abstract::We report a 25-week fetus with lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the US detection of a narrow chest, postaxial polydactyly of the hands, short acro-/mesomelic limbs and a ventricular septal defect. The postnatal radiographic features of the skeleton confirmed the diagnosis. Literature...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s002470000421

    authors: Sergi C,Voigtländer T,Zoubaa S,Hentze S,Meyberg-Solomeyer G,Troeger J,Tariverdian G,Otto HF,Schiesser M

    更新日期:2001-04-01 00:00:00

  • Size of the intracranial optic nerve and optic tract in neonates at term-equivalent age at magnetic resonance imaging.

    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

    authors: Oyama J,Mori K,Imamura M,Mizushima Y,Tateishi U

    更新日期:2016-04-01 00:00:00

  • Urinoma formation in posterior urethral valves: relationship to later renal function.

    abstract::A retrospective analysis of radiologically determined individual renal function was performed in five boys who presented in the neonatal period with posterior urethral valves, vesicoureteral reflux and documented urinoma formation. Renal function was evaluated with scintigraphy. There was reflux in eight of ten ureter...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/BF02011386

    authors: Fernbach SK,Feinstein KA,Zaontz MR

    更新日期:1990-01-01 00:00:00

  • Thoracic imaging of coronavirus disease 2019 (COVID-19) in children: a series of 91 cases.

    abstract:BACKGROUND:Pulmonary infection with SARS-CoV-2 virus (severe acute respiratory syndrome coronavirus 2; COVID-19) has rapidly spread worldwide to become a global pandemic. OBJECTIVE:To collect paediatric COVID-19 cases worldwide and to summarize both clinical and imaging findings in children who tested positive on poly...

    journal_title:Pediatric radiology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00247-020-04747-5

    authors: Caro-Dominguez P,Shelmerdine SC,Toso S,Secinaro A,Toma P,Damasio MB,Navallas M,Riaza-Martin L,Gomez-Pastrana D,Ghadimi Mahani M,Desoky SM,Ugas Charcape CF,Almanza-Aranda J,Ucar ME,Lovrenski J,Gorkem SB,Alexopoulou E,Cie

    更新日期:2020-09-01 00:00:00

  • Cystic dysplasia of the testis: sonographic diagnosis and differentiation from testicular microlithiasis.

    abstract::Cystic dysplasia of the testis is an uncommon benign cause of an intratesticular mass in children. It is often associated with renal abnormalities, which reflects the close developmental association between the kidneys and testes. The diagnosis is usually suspected based on sonographic findings. We present a case of c...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s002470050508

    authors: Levin TL,Kogan SJ

    更新日期:1998-12-01 00:00:00

  • Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy.

    abstract:BACKGROUND:The natural history of focal splenic lesions in paediatric Gaucher disease (GD) is unknown and these lesions are thought to persist despite enzyme replacement therapy (ERT). OBJECTIVE:To assess the prevalence, evolution and resolution of splenic nodules in a cohort of paediatric Gaucher patients treated wit...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-008-0811-3

    authors: Chippington S,McHugh K,Vellodi A

    更新日期:2008-06-01 00:00:00

  • The role of ultrasound in the follow-up of postoperative changes after pyeloplasty.

    abstract:BACKGROUND:Pyeloplasty is an established treatment for pelviureteric junction (PUJ) obstruction. The postoperative change in the size of the renal pelvis and the kidney parenchyma are variable. OBJECTIVE:To document the changes in renal pelvic size and renal parenchymal thickness following pyeloplasty and to establish...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s002470050342

    authors: Kis E,Verebély T,Kövi R,Máttyus I

    更新日期:1998-04-01 00:00:00

  • Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency.

    abstract::Extracranial hematoma without significant head trauma is uncommon. We discuss a 9-year-old girl who presented with sudden head swelling, bilateral proptosis, extraocular muscle palsy, and progressive visual disturbance after hair braiding. The diagnosis of a large subgaleal hematoma with extension into the superior as...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-009-1176-y

    authors: Kim D,Taragin B

    更新日期:2009-06-01 00:00:00

  • Fused labia. Clinical and radiological findings.

    abstract::The clinical and radiological findings in fused labia are described. Some of the patients were asymptomatic. The others were referred because of a suspicion of urinary infection. Micturating cystourethrography showed collection of contrast material above the labia and marked reflux into the vagina in all patients exam...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/BF00975335

    authors: Ben-Ami T,Boichis H,Hertz M

    更新日期:1978-04-10 00:00:00

  • Avoiding failure: tools for successful and sustainable quality-improvement projects.

    abstract::Involvement in successful and sustained quality improvement can be a very rewarding experience. However, it can be very difficult work. Up to 70% of attempted organizational change is not sustained. There are many reasons why quality-improvement projects might not be successful. In this article, the author reviews ite...

    journal_title:Pediatric radiology

    pub_type: 杂志文章,评审

    doi:10.1007/s00247-017-3823-z

    authors: Donnelly LF

    更新日期:2017-06-01 00:00:00

  • Cerebellar and cerebral atrophy in trichothiodystrophy.

    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

    authors: Yoon HK,Sargent MA,Prendiville JS,Poskitt KJ

    更新日期:2005-10-01 00:00:00

  • Transforaminal intrathecal delivery of nusinersen using cone-beam computed tomography for children with spinal muscular atrophy and extensive surgical instrumentation: early results of technical success and safety.

    abstract:BACKGROUND:Nusinersen, the only treatment approved by the United States Food and Drug Administration for spinal muscular atrophy (SMA), is delivered intrathecally. Many children with SMA have extensive spinal instrumentation and deformities, often precluding the use of standard approaches for gaining intrathecal access...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-017-4031-6

    authors: Weaver JJ,Natarajan N,Shaw DWW,Apkon SD,Koo KSH,Shivaram GM,Monroe EJ

    更新日期:2018-03-01 00:00:00

  • Childhood idiopathic chondrolysis of the hip: MRI features.

    abstract:BACKGROUND:Childhood idiopathic chondrolysis of the hip (ICH) causes progressive destruction of the articular cartilage of the hip joint with associated bone remodelling. The MRI features of this disease have not previously been described. OBJECTIVE:To document the MRI features of childhood ICH and determine which fea...

    journal_title:Pediatric radiology

    pub_type: 杂志文章

    doi:10.1007/s00247-002-0853-x

    authors: Johnson K,Haigh SF,Ehtisham S,Ryder C,Gardner-Medwin J

    更新日期:2003-03-01 00:00:00