DOCSLIB.ORG

Pattern of Congenital Heart Diseases in Rwandan Children with Genetic Defects

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

Open Access Research Pattern of congenital heart diseases in Rwandan children with genetic defects Raissa Teteli 1, Annette Uwineza 2,3,4 , Yvan Butera 5, Janvier Hitayezu 2,4 , Seraphine Murorunkwere 2, Lamberte Umurerwa 2, Janvier Ndinkabandi 2, Anne-Cécile Hellin 3, Mauricette Jamar 3, Jean-Hubert Caberg 3, Narcisse Muganga 1, Joseph Mucumbitsi 6, Emmanuel Kamanzi Rusingiza 7, Leon Mutesa 2,4,& 1Department of Pediatrics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda, 2Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda, 3Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liège, Liège, Belgium, 4Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda, 5Medical Student, College of Medicine and Health Sciences, University of Rwanda, 6Department of Pediatric Cardiology, King Faysal Hospital, Kigali, Rwanda, 7Department of Pediatric Cardiology, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda &Corresponding author: Leon Mutesa, Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Butare, Rwanda Key words: Congenital heart disease, genetic defects, pediatric patients, Rwanda Received: 30/09/2013 - Accepted: 28/02/2014 - Published: 25/09/2014 Abstract Introduction: Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric patients in Rwanda. Methods: A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients. Results: CHDs were detected in the majority of patients with genetic defects. The commonest isolated CHD was ventricular septal defect found in many cases of Down syndrome. In total, chromosomal abnormalities represented the majority of cases in our cohort and were associated with various types of CHDs. Conclusion: Our findings showed that CHDs are common in Rwandan pediatric patients with genetic defects. These results suggest that a routine echocardiography assessment combined with systematic genetic investigations including standard karyotype should be mandatory in patients presenting characteristic clinical features in whom CHD is suspected to be associated with genetic defect. Pan African Medical Journal. 2014; 19:85 doi:10.11604/pamj.2014.19.85.3428 This article is available online at: http://www.panafrican-med-journal.com/content/article/19/85/full/ © Raissa Teteli et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Pan African Medical Journal – ISSN: 1937- 8688 (www.panafrican-med-journal.com) Published in partnership with the African Field Epidemiology Network (AFENET). (www.afenet.net) Page number not for citation purposes 1 Introduction They also provided a signed consent for publication of patients’ photos. Congenital heart disease (CHD) is a problem of heart’s structure and Echocardiography function that is present at birth. It can describe a number of The echocardiography was performed using a SIEMENS ACUSON different anomalies affecting the heart. It is the most common type X300 Machine. The 2D and M mode were used to determine the of birth defect [1]. Population based studies on the prevalence of heart anatomy, the size of heart chambers and the function of both CHD worldwide was found to range between 1.0- 150 per 1000 right and left ventricles. The study with color Doppler allowed livebirths [1]. CHD is often divided into two groups, one of cyanotic assessing the level of regurgitation and velocity through heart disease such as tetralogy of Fallot (TOF), truncus arteriosus atrioventricular valves, semilunar valves and the great vessels. (TA), transposition of the great arteries (TGA); and acynotic heart Transducers with 9 and 4 MHz were selected and used according to disease including especially ventricular septal defect (VSD), the age and the size of the patients. atrioventricular septal defect (AVSD), patent ductus arteriosus (PDA), atrial septal defect (ASD), pulmonary stenosis (PS), and Cytogenetic and molecular analysis coarctation of the aorta (CoA) [1,2]. The CHDs are classified as Standard karyotype was performed in all patients on Q-banded multifactorial defects but the overwhelming majority of congenital metaphases spreads prepared from peripheral blood cells following heart malformations do not segregate in Mendelian ratios, although conventional protocols. We used 500 resolution’s level for banding they show familial aggregation, which suggests that genetic factors characterization. DNA samples were extracted and sent to the may play a role in their development [3]. Most of the known causes Center for Human Genetics in Liege-Belgium for further molecular of CHDs are sporadic genetic variations, point mutations, deletion or testing. Multiplex Probe Ligation Amplification (MLPA) was duplication [4]. Moreover, a large spectrum of chromosomal performed in all patients with normal karyotype using the SALSA abnormalities such as Trisomies 21, 13, and 18 are associated with MLPA P245 microdeletion syndrome kit and SALSA MLPA P070/ CHD in 5-8% of cases [5,6]. In addition, a small proportion of P036 for human telomere screening (MRC-Holland, Amsterdam, The chromosomal abnormalities are also frequently related to CHD, and Netherlands). Fluorescence in Situ Hybridization analysis (FISH) was the most common chromosomal abnormality found in this group is performed to confirm 22q11 deletion (Di George Syndrome), the 22q11 microdeletion causing DiGeorge syndrome [7]. Almost 7q11.23 (Williams’ syndrome). Lymphocytes were cultured by 30% of major cardiac malformations are associated with additional standard methods. Samples were analyzed by using dual-color FISH developmental abnormalities and result from a recognized probes specific to the commonly deleted area. Signals were chromosomal abnormality syndrome or occur as part of a genetic visualized using a fluorescent microscope. Between fifty metaphases syndrome [8,9]. However, up to now few data on CHD associated and 200 interphase nuclei from patient were evaluated. with genetic defects have been reported in African populations [7]. In addition, only one study done in Rwanda in 2007 showed some cases of Down syndrome associated with CHD and the VSD was the most common [10]. Apart from Down syndrome, many other Results genetic diseases such as Noonan syndrome are known to be associated with CHD [11]. Moreover, a recent clinical case study of A systematic karyotype was performed in all 125 patients enrolled in Rwandan patients with Noonan syndrome found all patients to be this study and MPLA screening was done in all remaining patients affected with CHD and PS was the most frequent [12]. Previous with normal karyotype. The standard karyotype was abnormal in research evidences have shown that the prevalence and pattern of 103 patients ( Table 2 ). The most frequent chromosome group of genetic disorders associated with CHD vary both within and abnormality detected in this group was trisomy 21 found in 89 between regions and countries [13,14]. For instance, we observe a patients. Among these cases, 84 had free trisomy 21 due to meiotic high prevalence of this association in Africa. This is mainly due to non disjunction while 5 cases were due Roberstonian translocation the unfavourable socio-economic conditions in Africa, the lack of in which we detected 3 cases of translocation between both diagnostic genetic laboratories and also prenatal diagnosis to chromosomes 21, one of t(21,22)(q10;q10) and another one of prevent genetic diseases. Therefore, the aim of the present study t(13,21)(q10,q10). In addition, we identified 4 cases of Trisomy 13 contributes to determine the occurrence and pattern of CHD (Patau syndrome), 3 with free trisomy 13 whereas 1 was a associated with genetic abnormalities in pediatric patients using Roberstonian translocation between both chromosomes 13; available cytogenetic diagnostic and echocardiographic facilities in t(13,13)(q10,q10). We also found 7 cases of free trisomy 18 Rwanda. (Edwards syndrome). Two cases of Cat eye syndrome including a mosaic form and 1 case of Turner syndrome were also detected. Figure 1 shows different patients with clinical features Methods characteristic of the identified syndromes. MLPA analysis performed in 22 patients with normal karyotype Patients revealed one case of deletion of 7q11.23 region involved in Our study population was composed of a group of 125 patients from Williams-Beuren syndrome, one case of deletion 13qter and one birth to 15 years; recruited over two years from May 2010 and May case of patient presenting 22q11.2 microdeletion causing DiGeorge 2012. All enrolled patients were selected based on the presence of syndrome) ( Figure 2 ). Fluorescence In Situ Hybridization (FISH) dysmorphic features and/or other clinical signs suggesting of any analysis was used to confirm those cases ( Figure 3 ). In total, genetic defect documented to be associated with CHD; also chromosomal abnormalities represented 84,8% in our cohort ( Table consulting the
Recommended publications
  • Poland Syndrome with Atypical Malformations Associated to a De Novo 1.5 Mb Xp22.31 Duplication

    Poland Syndrome with Atypical Malformations Associated to a De Novo 1.5 Mb Xp22.31 Duplication

    Short Communication Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication Carmela R. Massimino1 Pierluigi Smilari1 Filippo Greco1 Silvia Marino2 Davide Vecchio3 Andrea Bartuli3 Pasquale Parisi4 Sung Y. Cho5 Piero Pavone1,5 1 Department of Clinical and Experimental Medicine, Section of Pediatrics Address for correspondence Piero Pavone, MD, PhD, Department of and Child Neuropsychiatry, University of Catania, Catania, CT, Italy Pediatrics, AOU Policlinico-Vittorio Emanuele, University of Catania, 2 University-Hospital “Policlinico-Vittorio Emanuele,” University of Via S. Sofia 78, 95123 Catania, CT, Italy (e-mail: [email protected]). Catania, Catania, CT, Italy 3 Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children’s Hospital, Rome, Italy 4 Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine & Psychology, Sapienza University, c/o Sant’ Andrea Hospital, Rome, Italy 5 Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea Neuropediatrics Abstract Poland’s syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient Keywords carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, ► Poland’ssyndrome optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohy- ► hypoplasic optic pophysis, pyelic ectasia, and neurodevelopmental delay.
  • Etiology and Treatment of Congenital Vertical Talus: a Clinical Review Seema Sehmi

    Etiology and Treatment of Congenital Vertical Talus: a Clinical Review Seema Sehmi

    REVIEW ARTICLE Etiology and Treatment of Congenital Vertical Talus: A Clinical Review Seema Sehmi ABSTRACT Congenital vertical talus is a rare rigid flat foot deformity. Although the cause of the congenital vertical talus is heterogeneous, recent researches strongly support a genetic cause linking the genes expressed during early limb development. If remain untreated, it causes a lot of disability like pain and functional limitations. Traditional treatment for vertical talus involves extensive surgeries, which are associated with short and long complications. A minimally invasive approach involving serial manipulation and casting will produce excellent short-term results with regard to clinical and radiographic correction. To achieve correction without extensive surgery leading to more flexible and functional foot, a long-term research study is required. Keywords: Clinical, Congenital, Limb, Talus. AMEI’s Current Trends in Diagnosis & Treatment (2020): 10.5005/jp-journals-10055-0102 INTRODUCTION Department of Anatomy, Sri Guru Ram Das Institute of Medical The ankle joint complex involves articulation of talus with tibia and Sciences and Research, Vallah (Amritsar), Punjab, India fibula.1 The movements of the ankle joint are plantar flexion and Corresponding Author: Seema Sehmi, Department of Anatomy, dorsiflexion in sagittal plane and abduction and adduction in the 2 Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah coronal plane. Talus also articulates with plantar calcaneonavicular (Amritsar), Punjab, India, Phone: +91 9914754354, e-mail: drseema16@ 3 ligament and calcaneus to form talocalcaneonavicular joint. gmail.com Congenital vertical talus is a rare foot deformity, which is How to cite this article: Sehmi S. Etiology and Treatment of Congenital characterized by hindfoot valgus and equinus, with associated Vertical Talus: A Clinical Review.
  • A Narrative Review of Poland's Syndrome

    A Narrative Review of Poland's Syndrome

    Review Article A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment Eman Awadh Abduladheem Hashim1,2^, Bin Huey Quek1,3,4^, Suresh Chandran1,3,4,5^ 1Department of Neonatology, KK Women’s and Children’s Hospital, Singapore, Singapore; 2Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain; 3Department of Neonatology, Duke-NUS Medical School, Singapore, Singapore; 4Department of Neonatology, NUS Yong Loo Lin School of Medicine, Singapore, Singapore; 5Department of Neonatology, NTU Lee Kong Chian School of Medicine, Singapore, Singapore Contributions: (I) Conception and design: EAA Hashim, S Chandran; (II) Administrative support: S Chandran, BH Quek; (III) Provision of study materials: EAA Hashim, S Chandran; (IV) Collection and assembly: All authors; (V) Data analysis and interpretation: BH Quek, S Chandran; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: A/Prof. Suresh Chandran. Senior Consultant, Department of Neonatology, KK Women’s and Children’s Hospital, Singapore 229899, Singapore. Email: [email protected]. Abstract: Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function.
  • Familial Poland Anomaly

    Familial Poland Anomaly

    J Med Genet: first published as 10.1136/jmg.19.4.293 on 1 August 1982. Downloaded from Journal ofMedical Genetics, 1982, 19, 293-296 Familial Poland anomaly T J DAVID From the Department of Child Health, University of Manchester, Booth Hall Children's Hospital, Manchester SUMMARY The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low recurrence risk. The Poland anomaly comprises congenital unilateral slightly reduced. The hands were normal. Another absence of part of the pectoralis major muscle in son (Greif himself) said that his own left pectoralis combination with a widely varying spectrum of major was weaker than the right. "Although the ipsilateral upper limb defects.'-4 There are, in difference is obvious, the author still had to carry addition, patients with absence of the pectoralis out his military duties"! major in whom the upper limbs are normal, and Trosev and colleagues9 have been widely quoted as much confusion has been caused by the careless reporting familial cases of the Poland anomaly. labelling of this isolated defect as the Poland However, this is untrue. They described a mother anomaly. It is possible that the two disorders are and child with autosomal dominant radial sided part of a single spectrum, though this has never been upper limb defects.
  • Ultrasound Anomaly Details

    Ultrasound Anomaly Details

    Appendix 2. Association of Copy Number Variants With Specific Ultrasonographically Detected Fetal Anomalies Ultrasound Anomaly Details Abdominal wall Bladder exstrophy Body-stalk anomaly Cloacal exstrophy Gastroschisis Omphalocele Other: free text box CNS Absent cerebellar vermis Agenesis of corpus collosum Anencephaly Arachnoid cyst Cerebellar hypoplasia Chiari malformation Dandy-Walker malformation Encephalocele Anterior Posterior Holoprosencephaly Hydranencephaly Iniencephaly Lissencephaly Parenchymal defect Posterior fossa cyst Spina bifida Vascular anomaly Ventriculomegaly/Hydrocephaly Unilateral Mild (10-12mm) Moderate (13-15mm) Severe (>15mm) Bilateral Mild (10-12mm) Moderate (13-15mm) Severe (>15mm) Other: free text box Ear Outer ear malformation Unilateral Bilateral Other: free text box Effusion Hydrops Single effusion only Ascites Pericardial effusion Pleural effusion Skin edema Donnelly JC, Platt LD, Rebarber A, Zachary J, Grobman WA, and Wapner RJ. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014;124. The authors provided this information as a supplement to their article. © Copyright 2014 American College of Obstetricians and Gynecologists. Page 1 of 6 Other: free text box Fac Eye anomalies Cyclopia Hypertelorism Hypotelorism Microphthalmia Other: free text box Facial tumor Lip - Cleft Unilateral Midline Bilateral Nose Absent / hypoplastic nose bone Depressed nasal bridge Palate – Cleft Profile
  • REVIEW ARTICLE Congenital Convex Pes Valgus

    REVIEW ARTICLE Congenital Convex Pes Valgus

    Acta Orthop. Belg., 2007, 73, 366-372 REVIEW ARTICLE Congenital convex pes valgus (congenital vertical talus) The condition and its treatment : A review of the literature Bart H. BOSKER, Jon H. M. GOOSEN, René M. CASTELEIN, Adriaan K. MOSTERT From the Isala Klinieken, Weezenlanden Hospital, Zwolle, The Netherlands and the University Medical Center Utrecht, Utrecht, The Netherlands Much discussion exists about the best operative tech- al dislocation of the talocalcaneonavicular joint” nique to treat congenital convex pes valgus. In this more accurately directs attention to pathogenesis article a table of surgical approaches and an algo- and therapeutic implications (13). Anatomical fea- rithm, based upon literature review, are presented. tures of the deformity are a dislocated talonavicular In our opinion the technique of choice in a child joint, with the navicular bone lying dorsally on the younger than 2 years of age is extensive release with neck of the talus. The talus itself lies in a plantar lengthening of tendons and fixation procedures. In a child over 2 years of age, extensive release with and medial position, almost vertically directed. The tendon transfer is the preferred procedure. When head of the talus produces a prominence on the this procedure has failed, naviculectomy with exten- medial side ; clinically the calcaneus produces a sive release and tendon transfer, or subtalar / triple rocker bottom on the sole of the foot. The forefoot arthrodesis must be considered. is dorsiflexed, abducted and everted at the mid- tarsal joint, and the hind foot is fixed in plantar Keywords : congenital convex pes valgus ; treatment ; flexion. algorithm ; literature review.

  • Spina Bifida & Certain Birth Defects

    Spina Bifida & Certain Birth Defects Spina Bifida Benefits Eligibility. (38 U.S.C. 1805) There are three basic eligibility requirements: 1. The parent(s) of a spina bifida child-claimant must have performed active military, naval, or air service in the Republic of Vietnam between January 9, 1962 and May 7, 1975. 2. The child must be the natural child of the Vietnam veteran, regardless of age or marital status, who was conceived after the date on which the veteran first entered the Republic of Vietnam. The term “natural child” means a biological child and excludes the notion of deriving entitlement from adoptive parents. Only a biological parent of an adopted child could make the child eligible. 3. Spina Bifida benefits are payable for all types of spina bifida except spina bifida occulta. Private physicians, government or private institution examination reports may establish the diagnosis. Effective Date Level I Level II Level III 12/1/2003 $237 $821 $1,402 Children of Women Vietnam Veterans Born with Certain Birth Defects (38 U.S.C. 1815) Who is eligible for the Children of Women Vietnam Veterans monthly allowance? Under Public Law 106-419, children born to women Vietnam veterans may be eligible for a monthly monetary allowance if they suffer from certain covered birth defects. Children must have been conceived after the date on which the veteran first entered the Republic of Vietnam during the period beginning on February 28, 1961, and ending on May 7, 1975. (Spina Bifida however, is covered under the VA’s Spina Bifida Program.) VA identifies the birth defects as those that are associated with the service of the mother in Vietnam and resulted in permanent physical or mental disability.
  • A Framework for the Evaluation of Patients with Congenital Facial Weakness Bryn D

    A Framework for the Evaluation of Patients with Congenital Facial Weakness Bryn D

    Webb et al. Orphanet J Rare Dis (2021) 16:158 https://doi.org/10.1186/s13023-021-01736-1 REVIEW Open Access A framework for the evaluation of patients with congenital facial weakness Bryn D. Webb1,2* , Irini Manoli3, Elizabeth C. Engle4,5,6 and Ethylin W. Jabs1,2 Abstract There is a broad diferential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortu- nately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease special- ists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care. Keywords: Congenital facial weakness, Facial paralysis, Clinical genetics, Clinical characterization Clinical characteristics: congenital facial weakness CFW may be unilateral or bilateral and may be partial Congenital facial weakness (CFW) refers to decreased or complete (Fig. 2). Complete CFW refers to complete facial movement present at birth secondary to impaired absence of facial movement in all four quadrants of the function of facial musculature. CFW may be second- face (right upper quadrant, right lower quadrant, left ary to a defect in the motor nucleus of the facial nerve upper quadrant, and left lower quadrant). Patients with or the facial nerve itself (cranial nerve 7; CN7) (neuro- complete absence of facial movement on the left side genic), a defect at the neuromuscular junction, an inher- of the face may be described as having unilateral (left) ent muscular problem (myopathic), or other unknown or complete CFW.
  • Common Anomalies Associated To

    Common Anomalies Associated To

    ISSN: 2643-3885 Muhsin. Int J Foot Ankle 2018, 2:013 Volume 2 | Issue 2 Open Access International Journal of Foot and Ankle RESEARCH ARTICLE Common Anomalies Associated To Congenital Vertical Talus: A Single Center Experience Elmas Muhsin* Check for Department of Medical Genetic, Afyon Kocatepe University, Turkey updates *Corresponding author: Elmas Muhsin, Department of Medical Genetic, Afyon Kocatepe University, Afyonkarahisar, Turkey vicular. The incidence is estimated to be one in 10,000. Abstract Approximately half of all cases (idiopathic) are associ- Background: Congenital vertical talus is defined as a foot deformity in which the calcaneus is in equinus, the talus is ated with deformity and 2-5 neuromuscular and genet- plantarflexed, and there is a rigid and irreducible dislocation ic disorders in the remaining cases. There is evidence of the talonavicular joint complex, with the navicular articu- that some isolated deformities are transmitted as an lating on the dorsolateral aspect of the talar neck. It is often autosomal dominant feature with incomplete pene- associated with systemic involvement. trance [1-4]. The deformity is also known by congenital Aims: To identify the most common anomalies accompany- “rocker-bottom” flatfoot because of its rigid deformity ing to CVT (Congenital Vertical Talus). No literature investi- gating similar clinical data was found in the literature review. with the forefoot dorsiflexed and the hindfoot plantar- Study design: CVT has a systemic effect and is accom- flexed. The term “congenital convex pes valgus” is also panied by many anomalies. At the same time as this study, frequently used. To make a definite diagnosis, it is im- anomalies were frequently found accompanying CVT.
  • Chest Wall Abnormalities and Their Clinical Significance in Childhood

    Chest Wall Abnormalities and Their Clinical Significance in Childhood

    Paediatric Respiratory Reviews 15 (2014) 246–255 Contents lists available at ScienceDirect Paediatric Respiratory Reviews CME article Chest Wall Abnormalities and their Clinical Significance in Childhood Anastassios C. Koumbourlis M.D. M.P.H.* Professor of Pediatrics, George Washington University, Chief, Pulmonary & Sleep Medicine, Children’s National Medical Center EDUCATIONAL AIMS 1. The reader will become familiar with the anatomy and physiology of the thorax 2. The reader will learn how the chest wall abnormalities affect the intrathoracic organs 3. The reader will learn the indications for surgical repair of chest wall abnormalities 4. The reader will become familiar with the controversies surrounding the outcomes of the VEPTR technique A R T I C L E I N F O S U M M A R Y Keywords: The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various Thoracic cage intrathoracic organs such as the lungs, heart, vessels, esophagus, nerves etc. It also serves as the so-called Scoliosis ‘‘respiratory pump’’ that generates the movement of air into the lungs while it prevents their total collapse Pectus Excavatum during exhalation. In order to be performed these functions depend on the structural and functional Jeune Syndrome VEPTR integrity of the rib cage and of the respiratory muscles. Any condition (congenital or acquired) that may affect either one of these components is going to have serious implications on the function of the other. Furthermore, when these abnormalities occur early in life, they may affect the growth of the lungs themselves. The followingarticlereviewsthe physiology of the respiratory pump, providesa comprehensive list of conditions that affect the thorax and describes their effect(s) on lung growth and function.
  • Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017

    Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017

    Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017 Participating members of the Birth Defects Definitions Group: Lorenzo Botto (UT) John Carey (UT) Cynthia Cassell (CDC) Tiffany Colarusso (CDC) Janet Cragan (CDC) Marcia Feldkamp (UT) Jamie Frias (CDC) Angela Lin (MA) Cara Mai (CDC) Richard Olney (CDC) Carol Stanton (CO) Csaba Siffel (GA) Table of Contents LIST OF BIRTH DEFECTS ................................................................................................................................................. I DETAILED DESCRIPTIONS OF BIRTH DEFECTS ...................................................................................................... 1 FORMAT FOR BIRTH DEFECT DESCRIPTIONS ................................................................................................................................. 1 CENTRAL NERVOUS SYSTEM ....................................................................................................................................... 2 ANENCEPHALY ........................................................................................................................................................................ 2 ENCEPHALOCELE ..................................................................................................................................................................... 3 HOLOPROSENCEPHALY.............................................................................................................................................................
  • A Rare Case of Poland: Mobeius Syndrome in an Infant

    A Rare Case of Poland: Mobeius Syndrome in an Infant

    International Journal of Contemporary Pediatrics Gupta A. Int J Contemp Pediatr. 2019 Sep;6(5):2206-2208 http://www.ijpediatrics.com pISSN 2349-3283 | eISSN 2349-3291 DOI: http://dx.doi.org/10.18203 /2349-3291.ijcp20193151 Case Report A rare case of Poland: Mobeius syndrome in an infant Arohi Gupta* Department of Paediatrics, Lady Hardinge Medical College and Kalawati Saran Child hospital, New Delhi, India Received: 31 May 2019 Revised: 04 July 2019 Accepted: 09 July 2019 *Correspondence: Dr. Arohi Gupta, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may be extremely variable from case to case. However, it is classically characterized by absence (aplasia) of chest wall muscles on one side of the body (unilateral) and abnormally short, webbed fingers (symbrachydactyly) of the hand on the same side (ipsilateral). In those with the condition, there is typically unilateral absence of the pectoralis minor and the sternal or breastbone portion of the pectoralis major. In females, there may be underdevelopment or absence (aplasia) of one breast and underlying (subcutaneous) tissues. In some cases, associated skeletal abnormalities may also be present, such as underdevelopment or absence of upper ribs; elevation of the shoulder blade (Sprengel deformity); and/or shortening of the arm, with underdevelopment of the forearm bones (i.e., ulna and radius).