Abstract：
:Skeletal dysplasia are a relatively common and distinct group of genetic disorders. Even though abnormalities of bone growth are the major clinical manifestations, the pathological process may involve in any body system. Many of these disorders have dire consequences such as neonatal death and most will have life-long physical and psychosocial morbidity associated with them. Recent advances in genetic research have identified the genes underlying the primary defects in several common skeletal dysplasias such as achondroplasia and diastrophic dysplasia. While these advances are clearly important in developing better therapy and a cure for those conditions, the role of the pediatrician as the diagnostician has remained unchanged. In this article we describe how a systematic approach using the simplest of tools--clinical assessment and radiograph--can arrive at a diagnosis in most instances of newborns with skeletal dysplasias. The key features that are essential for establishing a diagnosis for most of the entities encountered in the newborn are described along with our general approach to the evaluation of the radiographs.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Macpherson RI,Pai GSdoi
10.1007/BF02723957keywords:
subject
Has Abstractpub_date
2000-12-01 00:00:00pages
907-13issue
12eissn
0019-5456issn
0973-7693journal_volume
67pub_type
杂志文章abstract：OBJECTIVES:In India, girls are sex-selectively abandoned. The abandoned babies are brought to the nearest hospital under the jurisdiction of the administration. The authors aimed to study the demographic data and disease profile of those babies. METHODS:In this hospital-based, retrospective, descriptive study, authors...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-018-2838-2
更新日期：2019-04-01 00:00:00
abstract：OBJECTIVES:To understand the problems of school going adolescents in selected schools in the first phase and to provide class based family life education in the second phase. METHODS:Step 1: Identification of the study sample, Step 2: Each adolescent was individually administered TSQ-T by trained project staff , Step ...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-013-1132-6
更新日期：2013-11-01 00:00:00
abstract：OBJECTIVE:To review contemporary guidelines and therapies for pediatric cardiac arrest and discuss potential novel therapies. METHODS:Key articles and guidelines in the field were reviewed along with recent publications in the fields of neurointensive care and neuroscience germane to cerebral resuscitation. RESULTS:A...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s12098-008-0117-3
更新日期：2008-06-01 00:00:00
abstract：: ...
journal_title：Indian journal of pediatrics
pub_type： 信件
doi：10.1007/s12098-018-2702-4
更新日期：2019-01-01 00:00:00
abstract：:A detailed information on a total of 448 consecutive Nepali births which occurred between January 1, 1985 and December 31, 1994 was collected from the birth registers of the Khasi-Jaintia Presbetyrian Synod Hospital of Shillong, Meghalaya. After the exclusion of still and twin births, and the cases of missing informat...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02760471
更新日期：2000-07-01 00:00:00
abstract：:Low hemoglobin and low MCHC levels were indicative of high incidence of iron deficiency in preschool children. The extent of iron deficiency as assessed by serum ferritin and free erythrocyte protoporphyrin showed a different trend. While FEP levels were highly suggestive of extensive iron deficiency (in 40-45% of chi...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02759985
更新日期：1992-03-01 00:00:00
abstract：:Allergic rhinitis (AR) and asthma are common respiratory allergic disorders which are increasing globally more in developed countries. Although much has been written about childhood asthma and guidelines published by various international and national fora, not much information is available on AR. This is most common ...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02734233
更新日期：2002-03-01 00:00:00
abstract：:Gastrointestinal tumours are rare in children and leiomyoblastoma of small intestine is still rarer. We report a case of leiomyoblastoma of small intestine in a child who presented with acute intestinal obstruction. ...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02831363
更新日期：1998-11-01 00:00:00
abstract：OBJECTIVE:To assess the trends and outcomes in referrals of 'phimosis for circumcision' to a tertiary care pediatric surgical department. METHODS:This is a prospective study of 100 consecutive children of presumed phimosis referred for circumcision. They were assessed and classified by the senior author as having eith...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-009-0120-3
更新日期：2009-08-01 00:00:00
abstract：:Nosocomial infections in Pediatric Intensive Care Units (PICUs) caused by multidrug-resistant bacterial organisms are increasing. This review attempts to report on significant findings in the current literature related to nosocomial infections in PICU settings with an international perspective. The types of nosocomial...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s12098-010-0253-4
更新日期：2011-02-01 00:00:00
abstract：:Hypocalcemia is a frequently observed clinical and laboratory abnormality in neonates. Ionic calcium is crucial for many biochemical processes including blood coagulation, neuromuscular excitability, cell membrane integrity, and many of the cellular enzymatic activities. Healthy term infants undergo a physiological na...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s12098-010-0176-0
更新日期：2010-10-01 00:00:00
abstract：OBJECTIVE:To assess the benefits of nutrition supplementation in children living with HIV (CLHIV). METHODS:A prospective observational study was carried out at antiretroviral therapy (ART)/pediatric centre of excellence (PCOE), Niloufer hospital for a period of one year in CLHIV (N = 164) aged 1 to 18 y referred to AR...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-015-1873-5
更新日期：2016-03-01 00:00:00
abstract：:Conducting economic evaluation alongside clinical trials is an efficient way of getting valid and reliable information with minimum assumptions made during data collection. However, design of a randomised control trial (RCT) takes away several of the real world situations, the variations in resource utilisation, their...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02820689
更新日期：2000-05-01 00:00:00
abstract：:Two hundred and forty two mothers in 7 villages of Narayanganj district, Bangladesh were interviewed to assess their knowledge and attitude regarding breastfeeding and weaning using pretested questionnaires, though 83.5% mothers knew that colostrum is good for the child, less than 8 percent of them gave it as the firs...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02752329
更新日期：1995-03-01 00:00:00
abstract：:The reasons for comparatively low infant mortality rates in the Indian state of Kerala are examined. The importance of improvements in education and in the health care delivery system is stressed. ...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02751009
更新日期：1985-09-01 00:00:00
abstract：: ...
journal_title：Indian journal of pediatrics
pub_type： 信件
doi：10.1007/s12098-018-2771-4
更新日期：2019-02-01 00:00:00
abstract：OBJECTIVE:To evaluate the antenatal profile of the mother and the immediate neonatal morbidity and mortality till discharge. METHODS:The study was a retrospective analysis of 92 patients of preterm labour who delivered babies weighing RESULTS:A total of 92 mothers in preterm labour at 26 to 34 weeks were admitted and...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02898441
更新日期：2006-08-01 00:00:00
abstract：:This study reports the clinical picture and measles virus antibody titres in 32 patients with cases of suspected subacute sclerosing panencephalitis (SSPE). The history of myoclonic jerks, mental regression, inability to walk and slurred speech, were noted in these cases. The EEG showed generalised periodic complexes ...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02825445
更新日期：1991-11-01 00:00:00
abstract：OBJECTIVE:To compare the insertion characteristics, utilization profile, life span and the complication rates of Central lines (CL) and Peripherally inserted central lines (PICL). METHODS:A prospective study of all CL or PICL insertions during January 2007 to September 2007 in the Neonatal Surgical Intensive Care Unit...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-009-0291-y
更新日期：2010-02-01 00:00:00
abstract：:An 11-mo-old infant received 12.5 times the maximum therapeutic dose of amlodipine as a result of a medication error in lieu of amoxicillin. He presented with vomiting, lethargy, breathlessness, muffled heart sounds and progressed to hypotensive shock within three hours of admission. He received mechanical ventilation...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-012-0861-2
更新日期：2013-06-01 00:00:00
abstract：OBJECTIVES:To determine the incidence, etiology and outcome of Cardiorenal syndrome (CRS) in hospitalized children. METHODS:A prospective cohort study was carried out in 242 children between 6 mo to 18 y of age hospitalized with primary cardiac, renal or any systemic disorder at a tertiary care center in India. The pr...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-017-2307-3
更新日期：2017-06-01 00:00:00
abstract：OBJECTIVE:An antibiotic-sensitivity study was conducted on 117 strains of group A streptococcus (GAS), 60 strains of group G streptococcus (GGS) and 20 strains of group C streptococcus (GCS) in order to understand current resistance trends. METHODS:All strains were tested by the Kirby Bauer disc diffusion method to 15...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-007-0200-1
更新日期：2007-12-01 00:00:00
abstract：:Tuberculosis continues to be a major infectious cause of global morbidity and mortality, both in children and adults, in spite of widespread vaccination of infants with Bacille Calmette-Guerin (BCG) and the availability of effective antibiotics. The failure of BCG to significantly affect disease incidence in adults in...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,评审
doi：
更新日期：2000-02-01 00:00:00
abstract：:India recognized the importance of improving the health and nutritional status of children, and initiated steps to improve access to nutrition and health services soon after independence. Over the years, the infrastructure and human resources for manning the health and nutrition services have been built up and current...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-010-0038-9
更新日期：2010-03-01 00:00:00
abstract：OBJECTIVES:To evaluate the efficacy and safety of nitazoxanide in intestinal parasitic infections in children. METHODS:Four databases, PubMed, EMBASE, Web of Science and Cochrane Library, have been systematically searched from the inception of each database up to March 1st, 2019. The enrolled studies were limited to r...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,meta分析
doi：10.1007/s12098-019-03098-w
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:To assess the relationship of breakfast intake with psychiatric distress and violent behaviors among Iranian children and adolescents. METHODS:This national survey was conducted among 14,880 students, aged 6-18 y. They were selected by stratified multistage sampling method from urban and rural areas of 30 pr...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-016-2049-7
更新日期：2016-09-01 00:00:00
abstract：:Epilepsy surgery is safe and effective treatment in children who fail to respond to antiepileptic medications. After failure of two appropriate antiepileptic medications, chances that the child will become seizure free with more or different medications is <5%, and she should be diagnosed with "refractory epilepsy". A...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s12098-014-1541-1
更新日期：2014-10-01 00:00:00
abstract：OBJECTIVE:The present study aimed to estimate the prevalence of acute diarrhea and its correlates in remote rural villages of south Pakistan. METHODS:The authors selected 1878 children less than 3 years of age through stratified random sampling from 64 villages having the number of children enrolled proportionate to t...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02725583
更新日期：2003-03-01 00:00:00
abstract：OBJECTIVE:To study the prevalence of celiac disease in Indian children with Down syndrome and evaluate its clinical and laboratory predictors. METHODS:Prevalence of celiac disease (CD) was assessed in 100 patients with Down syndrome (DS) attending pediatric genetic clinic at All India Institute of Medical Sciences,in ...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-012-0838-1
更新日期：2013-02-01 00:00:00
abstract：:Allgrove syndrome consists of triad of Adrenal hypoplasia, Achalasia cardia and Alacrimia. Often the first manifestation of adrenal hypoplasia is Addisonian crisis precipitated by infection or trauma. We present case of a 9-year-old boy who presented in shock due to adrenal failure later confirmed to have Allgove synd...
journal_title：Indian journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s12098-007-0179-7
更新日期：2007-10-01 00:00:00
