Bruck syndrome.

Abstract:

:The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck syndrome. A 34 week male baby weighing 1.7 kg at birth was noted to have multiple flexion contractures and pterygia at elbows, wrists and knees, in addition to right foot talipes equinovarus deformity. Postnatally the child developed multiple swellings involving both the upper and lower limbs. A plain radiograph revealed the presence of fractures involving the long bones of the upper and lower limbs. A diagnosis of osteogenesis imperfecta with arthrogryposis multiplex congenita was made, and the patient was labeled as a case of Bruck Syndrome. The aim of this report is to make the readers aware regarding this rare entity and to specifically look for presence of features suggestive of osteogenesis imperfecta when encountered with a neonate born with arthrogryposis multiplex congenita.

journal_name

Indian J Pediatr

authors

Datta V,Sinha A,Saili A,Nangia S

doi

10.1007/BF02731745

keywords:

subject

Has Abstract

pub_date

2005-05-01 00:00:00

pages

441-2

issue

5

eissn

0019-5456

issn

0973-7693

journal_volume

72

pub_type

杂志文章
  • Echocardiographic Inferior Vena Cava Measurement As An Alternative to Central Venous Pressure Measurement in Neonates.

    abstract:OBJECTIVES:To evaluate the correlation between echocardiographic inferior vena cava (IVC) measurements and central venous pressure (CVP) in neonates. Also, to evaluate the correlation between IVC measurements and gestational age (GA) and body weight (BW). METHODS:This cross sectional analytical study was conducted fro...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-017-2382-5

    authors: Mugloo MM,Malik S,Akhtar R

    更新日期:2017-10-01 00:00:00

  • Challenges in human genetics in India in the new millennium.

    abstract::This editorial provides information on the first draft of the human genome, and examines the impact this will have on the practice of medicine, with special reference to India. It examines what is currently possible in India, what we should do in the immediate future, and what is in store in the long run. The future i...

    journal_title:Indian journal of pediatrics

    pub_type: 社论

    doi:10.1007/BF02726224

    authors: Verma IC

    更新日期:2000-11-01 00:00:00

  • Movement assessment of infants as a predictor of one year neuromotor outcome in very low birth weight infants.

    abstract:OBJECTIVE:To predict neuromotor outcome in Very Low Birth Weight infants at 1 year using Movement Assessment of Infants scale at 4 and 8 months of corrected age. METHODS:This hospital based prospective observational study consecutively recruited 45 infants with birth weight ≤ 1,500 g and admitted to neonatal intensive...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-011-0468-z

    authors: Metgud DC,Patil VD,Dhaded SM

    更新日期:2011-11-01 00:00:00

  • Glial choristoma.

    abstract::Glial choristoma is a developmental malformation of heterotopic central nervous tissue with limited growth potential. It is considered to be one of the very rare choristomatous lesions involving the oral cavity. This report details the morphological characteristics of glial choristoma arising from the palate in a newb...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02722638

    authors: Bajaj P,Shubha BS,Agarwal K,Aggarwal C

    更新日期:2002-05-01 00:00:00

  • Safe blood transfusion practices.

    abstract::The advent of AIDS has raised a concern regarding transfusion transmitted diseases. Blood transfusion is safer than ever before through continued improvements in safe donor recruitment, screening of donors, testing of donated blood and appropriate clinical use of blood. The risk of residual infections is further reduc...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02722029

    authors: Bharucha ZS

    更新日期:2001-02-01 00:00:00

  • Incidence and correlates of "growth faltering" among 0-6 y children: a panel study from rural Wardha.

    abstract:OBJECTIVES:To study the magnitude and determinants of growth faltering among 0-6 y children in adopted villages of medical college. METHODS:A total 305 children of less than 6 y were followed monthly for 1 y to assess the growth faltering. At each visit, the mothers/caretakers of children were interviewed and informat...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-011-0582-y

    authors: Kumar R,Deshmukh PR,Garg BS

    更新日期:2012-03-01 00:00:00

  • Liver Involvement in Congenital Hypopituitarism.

    abstract:OBJECTIVE:Cholestatic jaundice in early infancy is a complex diagnostic challenge. Cholestasis caused by endocrine disease is rare and poorly recognized. The aim of this paper is to report patients with liver dysfunctions resulting from hypopituitarism. METHODS:Six patients with liver dysfunction diagnosed as hypopitu...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-018-2833-7

    authors: Altay D,Eren E,Ozkan TB,Ozgur T,Tarım O

    更新日期:2019-05-01 00:00:00

  • Umbilical Cord Blood Culture in Diagnosis of Early Onset Neonatal Sepsis.

    abstract:OBJECTIVE:To evaluate the use of umbilical cord blood culture (UCBC) as compared to neonatal blood culture (NBC) in the diagnosis of early onset neonatal sepsis (EONS). METHODS:This hospital based prospective observational study was conducted in the Department of Pediatrics and Department of Obstetrics & Gynaecology a...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-020-03345-5

    authors: Meena R,Meena KK,Athwani V,Gothwal S,Bairwa GS,Sitaraman S

    更新日期:2020-10-01 00:00:00

  • Prooxidant-antioxidant balance in perinatal asphyxia.

    abstract:OBJECTIVE:To determine the prooxidant-antioxidant balance (PAB) in neonatal asphyxia and compare it with values for PAB in healthy neonates. METHODS:In a prospective observational study, serum PAB of umbilical cord blood of 30 neonates with asphyxia [pH < 7.2, low Apgar score, signs of respiratory distress syndrome (R...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-013-1239-9

    authors: Boskabadi H,Navaee Boroujeni A,Mostafavi-Toroghi H,Hosseini G,Ghayour-Mobarhan M,Hamidi Alamdari D,Biranvandi M,Saber H,Ferns GA

    更新日期:2014-03-01 00:00:00

  • Dyslipidemia in HIV Infected Children Receiving Highly Active Antiretroviral Therapy.

    abstract:OBJECTIVE:To assess the prevalence of dyslipidemia and lipodystrophy in Indian children receiving non-nucleoside reverse transcriptase inhibitor (NNRTI) based highly active antiretroviral therapy (HAART) and to determine the associated risk factors for the same. METHODS:The present cross-sectional study was conducted ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-015-1859-3

    authors: Mandal A,Mukherjee A,Lakshmy R,Kabra SK,Lodha R

    更新日期:2016-03-01 00:00:00

  • Designing a research study.

    abstract::There are 10 steps to consider in any research study. These steps can be used to perform a critical appraisal of a published paper, or to design your study in the first place. The use of a simple system such as this can ensure that biases in study design are avoided and that an appropriate study is developed. (1) What...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02802638

    authors: Heller R

    更新日期:2000-01-01 00:00:00

  • Microvillous Inclusion Disease as a Cause of Protracted Diarrhea.

    abstract::Microvillous inclusion disease (MVID), also known as congenital microvillus atrophy, was first described by Davidson et al. in 1978. Till date, only a handful of cases with MVID have been described in English literature. It is an autosomal recessive disorder with no sex predisposition and more commonly noted in countr...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-019-02963-y

    authors: Phulware RH,Gahlot GPS,Malik R,Gupta SD,Das P

    更新日期:2019-09-01 00:00:00

  • Severity of rheumatic mitral regurgitation.

    abstract::Thirty patients below the age of 15 years (range 8-1/2 to 15 years, mean 11.8 years) have been studied for the severity of rheumatic mitral regurgitation. Moderately severe to severe pulmonary venous hypertension was found in 76.6% and pulmonary arterial hypertension in 60%. Left ventricular volumes could be calculate...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02832994

    authors: Shrivastava S,Subramanyan K,Tandon R

    更新日期:1992-09-01 00:00:00

  • Somatizing disorders affecting the respiratory tract.

    abstract::Respiratory disease in childhood is common but not all children presenting to the paediatrician have an underlying organic cause for their symptoms. This article reviews the spectrum of non-organic somatization disorders that might be encountered and advises about the diagnosis and treatment of habit cough, laryngeal ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02726188

    authors: Connett GJ

    更新日期:2000-02-01 00:00:00

  • GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures.

    abstract::Mutations in the gamma-aminobutyric acid type A receptor (GABRG2) gene have been associated with generalized epilepsy, childhood absence epilepsy and febrile seizures. In the present study the authors investigated the association of polymorphism of the GABRG2 with simple febrile seizures (FS) in Egyptian children. Pol...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-011-0564-0

    authors: Salam SM,Rahman HM,Karam RA

    更新日期:2012-11-01 00:00:00

  • Adolescents with attention deficit and hyperactivity disorder/learning disability and their proneness to accidents.

    abstract:OBJECTIVE:The aim of the study was to determine if attention deficit and hyperactivity disorder (ADHD)/ learning disability (LD) adolescents are more prone to accidents and to investigate the parental mode of coping with that risk. METHODS:One hundred and eight high school pupils diagnosed with ADHD/LD and studying in...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02825823

    authors: Brook U,Boaz M

    更新日期:2006-04-01 00:00:00

  • Thoraco-abdominal mature teratoma in a left diaphragmatic hernia.

    abstract::This case describes a contiguous mediastinal and retroperitoneal mature teratoma in a congenital diaphragmatic defect, a combination that is hitherto unreported in literature. It substantiates embryological chronology of events during the cephalad migration of the primordial germ cells through the developing diaphragm...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-010-0020-6

    authors: Gazula S,Mathur SR,Iyer VK,Gupta AK,Pawar DK,Agarwala S

    更新日期:2010-05-01 00:00:00

  • Hepatitis B vaccination: myths and controversies.

    abstract::Hepatitis B has attracted a lot of attention in recent times. It has been suggested that it is a widely prevalent disease and an important cause of morbidity and mortality in our country. A dispassionate analysis of available data suggests that the prevalence of disease may be much less than believed hitherto, and the...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02723142

    authors: Mittal SK

    更新日期:2003-06-01 00:00:00

  • Pulse steroid therapy.

    abstract::Intravenous supra-pharmacological doses of corticosteroids are used in various inflammatory and autoimmune conditions because they are cumulatively less toxic than sustained steroid treatment at lower quantitative dosage. Their action is supposed to be mediated through non-genomic actions within the cell. Common indic...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-008-0210-7

    authors: Sinha A,Bagga A

    更新日期:2008-10-01 00:00:00

  • Oral versus Injectable Antibiotics in Asymptomatic Neonates Born to Mothers with Risk Factors for Sepsis: A Pilot Randomized Controlled Trial.

    abstract:OBJECTIVE:To compare oral co-amoxiclav with injectable ampicillin and amikacin for the management of asymptomatic neonates born to mothers with risk factors for infection. METHODS:This open label, randomized controlled trial was conducted in a tertiary care teaching hospital on neonates of gestational age ≥ 34 wk with...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-020-03412-x

    authors: Kumar A,Dubey AK,Basu S

    更新日期:2020-10-01 00:00:00

  • Mapping interpersonal communication between pediatricians and mothers: understandings, interdependencies and gaps.

    abstract::Interpersonal communication between pediatricians and mothers is both complex and interdependent. The mother is dependent on the pediatrician for her child's wellbeing and care along expertise-related dimensions for which she cannot provide. The pediatrician is dependent on the mother's ability to provide accurate inf...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s12098-012-0934-2

    authors: Mookerjee D

    更新日期:2013-12-01 00:00:00

  • Surgical management of congenital heart defects: current trends.

    abstract::Surgical treatment for congenital heart disease has become available over the last five decades. Palliative procedures have been designed to improve physiologic abnormalities, for example systemic artery (or venous) to pulmonary artery shunts of various types to increase the pulmonary blood flow, pulmonary artery cons...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02820180

    authors: Chopra PS,Rao PS

    更新日期:1991-09-01 00:00:00

  • Antenatal diagnostic problem of congenital rubella.

    abstract::We present a preterm neonate who developed congenital rubella syndrome in a mother who had rubella at 5 months of gestation. An amniocentesis was done in the mother at that time but amniotic fluid rubella PCR was negative. Thus, inspite of prenatal screening, one cannot definitely conclude absence of perinatal transmi...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-009-0312-x

    authors: Shah I,Bhatnagar S

    更新日期:2010-04-01 00:00:00

  • ADad 2: the validation of the Screen for Child Anxiety Related Emotional Disorders for Anxiety Disorders among adolescents in a rural community population in India.

    abstract:OBJECTIVE:Screen for Child Anxiety Related Emotional Disorders (SCARED), a measure found useful in different settings and cultures has not been validated in the subcontinent. This study validated this measure for identifying Anxiety Disorder (AD) among adolescents in an Indian community context. METHODS:Five hundred a...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-013-1233-2

    authors: Russell PS,Nair MK,Russell S,Subramaniam VS,Sequeira AZ,Nazeema S,George B

    更新日期:2013-11-01 00:00:00

  • Nitazoxanide in the Treatment of Intestinal Parasitic Infections in Children: A Systematic Review and Meta-Analysis.

    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

    authors: Li J,Kuang H,Zhan X

    更新日期:2020-01-01 00:00:00

  • A Practical Approach to Juvenile Dermatomyositis and Juvenile Scleroderma.

    abstract::Juvenile dermatomyositis and juvenile scleroderma are rare multisystem autoimmune disorders. Although they share some pathognomonic hallmarks with adult onset myositis or scleroderma, there are significant differences in presentation, characteristics and associated features when the diseases present in childhood. In v...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s12098-015-1907-z

    authors: McCann LJ,Pain CE

    更新日期:2016-02-01 00:00:00

  • Superior mediastinal syndrome : a rare presenting feature of acute myeloid leukemia.

    abstract::Superior mediastinal syndrome (SMS) is an uncommon manifestation of malignant neoplastic disease in children. The commonest neoplastic cause of SMS is Non Hodgkin lymphoma. Acute myeloid leukemia (AML) as a cause of SMS is extremely uncommon in childhood. The authors hereby report a case of a child with AML who presen...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s12098-012-0799-4

    authors: Seth R,Bolia R,Jain R,Chopra A,Singh S,Kumar R

    更新日期:2013-02-01 00:00:00

  • Feeding in the PICU.

    abstract::Nutrition plays a vital role in maintaining and enhancing the health of an individual. As mortality within intensive care units declines because of increased expertise and better equipment, attention is being focused on better methods of feeding the critically ill child. Feeding the child is one aspect that has been r...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02721839

    authors: Udani S

    更新日期:2001-04-01 00:00:00

  • Musculoskeletal Evaluation of Children with Cerebral Palsy.

    abstract::Cerebral Palsy (CP) is the most common chronic disability of childhood. The problems involved are complex; not only do these children have problems of mobility, but a plethora of associated problems [1]. A recent definition of CP includes secondary musculoskeletal problems [2]. The inclusion of this in the definition ...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s12098-015-1999-5

    authors: Johari R,Maheshwari S,Thomason P,Khot A

    更新日期:2016-11-01 00:00:00

  • The importance of pulmonary function tests in adenotonsillectomy indications.

    abstract::Children who had undergone adenotonsillectomy for recurrent adenotonsillitis showing no signs of clinical or radiological obstructive manifestations were evaluated with pulmonary function tests before, and one month after the operation. In relation to the result obtained by function tests, 60% of 45 cases (27) had the...

    journal_title:Indian journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02822185

    authors: Kavukcu S,Coskun S,Cevik N,Kuscu B,Akkoclu A

    更新日期:1993-03-01 00:00:00