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Topic: Lung agenesis heart defect thumb anomalies


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In the News (Tue 16 Sep 14)

  
  BD Glossary   (Site not responding. Last check: 2007-10-31)
Agenesis, aplasia, or hypoplasia of the lung The absence or incomplete development of a lung or lung tissue.
Aortic valve stenosis A cardiac anomaly characterized by a narrowing or stricture of the aortic valve.
Hypospadias A congenital defect in which the urinary meatus (urinary outlet) is on the underside of the penis or on the perineum (area between the genitals and the anus).
www.dshs.state.tx.us /birthdefects/glossary.shtm   (2294 words)

  
 Leyna Marie Holstine - A Bravenet.com Hosted Site   (Site not responding. Last check: 2007-10-31)
Pulmonary - Pulmonary hypoplasia and abnormal lobation of the lung
Congenital heart defect with congestive heart failure is a frequent cause of death.
Visceral anomalies are common and include gastrointestinal anomalies such as omphalocele and esophageal atresia, congenital heart defects such as septal defect with poly-valvular disease, and renal anomalies such as polycystic enlarged horseshoe and ectopic kidneys.
leynamarieholstine.bravehost.com /t18info.html   (4232 words)

  
 eMedicine - Congenital Spinal Deformity : Article by Robert Mervyn Letts, MD, FRCSC, FACSC   (Site not responding. Last check: 2007-10-31)
Hence, cardiac anomalies are often associated with congenital scoliosis of the thoracic spine and renal anomalies are often associated with congenital malformation of the lumbar spine.
Sacral agenesis is the term commonly applied to a group of disorders characterized by absence of the variable portion of the caudal portion of the spine.
Bony anomalies that may be visible include a backward tilt of the odontoid process, an articular facet between the anterior rim of the occiput and the odontoid process, asymmetrical atlantoaxial joints as seen on the anteroposterior view, and fusion of the body and lamina of the second to the third cervical vertebrae.
www.emedicine.com /orthoped/topic618.htm   (11304 words)

  
 Plast Reconstr Surg 2001 October;108(5):1316-1333. Copyright © 2001 American Society of Plastic Surgeons. Prenatal ...   (Site not responding. Last check: 2007-10-31)
It is caused by vermal agenesis with abnormal development of the hindbrain wherein the fourth ventricle expands the posterior fossa, forming a cyst and causing the pathognomonic separation of the cerebellar hemispheres.
Renal anomalies comprise 5 to 10 percent of extracranial involvement in hemifacial microsomia.
Romero and coworkers summarized fetal ultrasonic diagnosis of renal anomalies.
www.smiletrain.org /library/images/cleft206article.htm   (8209 words)

  
 Unilateral lobar pulmonary agenesis in sibs -- FOKSTUEN and SCHINZEL 37 (7): 557 -- Journal of Medical Genetics   (Site not responding. Last check: 2007-10-31)
In contrast to bilateral agenesis of the lung, unilateral absence
with bilateral agenesis of the lung, concluded that an autosomal
Agenesis of the lung: report of a case, with a review of all previously reported cases.
jmg.bmjjournals.com /cgi/content/full/37/7/557   (1329 words)

  
 Congenital Malformations Registry - Summary Report - New York State Department of Health
A cardiac anomaly characterized by a narrowing or stricture of the aortic valve.
A congenital defect in which the head of the femur does not articulate with the acetabulum of the pelvis because of an abnormal shallowness of the acetabulum.
A congenital defect in which the urinary meatus (urinary outlet) is on the underside of the penis or on the perineum (area between the genitals and the anus).
www.health.state.ny.us /nysdoh/cmr/1998_2001/append5.htm   (2127 words)

  
 TheFetus.net - Twins, conjoined, structural anomalies -Richard Jaffe, MD, Cynthia Porterfield, DO, Nevenka S. Gould, MD   (Site not responding. Last check: 2007-10-31)
The heart of the smaller twin was considerably more abnormal and consisted essentially of a tetralogy of Fallot type of malformation.
The prevalence of congenital heart disease in thoracopagus twins is high and is related to the degree of union.
The etiology of abdominal wall defects is considered to be due to a failure of proper folding of the early embryo during the process of conversion from the embryonic disk to a cylindrical embryo.
www.thefetus.net /page.php?id=283   (1690 words)

  
 Holt Oram Syndrome
In some affected individuals, the thumbs may also be permanently curved inward (clinodactyly), look like other fingers (not thumbs) in shape and size (digitalization), be positioned along with the other fingers on the hand, and/or lack the ability to touch each fingertip of the same hand (nonopposable thumb).
For example, electrocardiographic conduction defects (e.g., varying degrees of heart block) and/or structural (anatomical) malformations of the heart (e.g., ASDs, VSDs, patent ductus arteriosus, mitral valve prolapse, pulmonary stenosis, etc.) may be confirmed by a thorough clinical examination and several specialized tests that allow physicians to evaluate the structure and function of the heart.
Heart block may initially be identified by detection of a slow, regular heartbeat that fails to increase during exercise.
hw.healthdialog.com /kbase/nord/nord523.htm   (4940 words)

  
 Congenital Heart Disease
The cardiothoracic ratio is NOT useful in neonate/infants, as the thymus contributesmuch to the size and degrees of inspiration vary (>60% CTR is sometimes quoted).
In addition, there is an intracardiac defect through which blood is shunted away from the lungs causing cyanosis.
* Holt-Oram syndrome is an ostium secundum (II) ASD with conduction defects and skeletal abnormalities of the upper extremity (absent or froglike thumb, absent/dysplastic radius).
www.concentric.net /~Drphilxr/heartpk1.htm   (3709 words)

  
 Microgastria - limb reduction defect
This syndrome is characterised by the association of Microgastria with a limb reduction defect.
Most of the 50 cases of congenital microgastria reported in the literature are associated with other multiple congenital anomalies: limb-reduction defects (unilateral or bilateral absence of the thumbs, absence of the radius and ulna, total amelia), asplenia, intestinal malrotation, hepatic symmetry, cardiopulmonary anomalies, central nervous system and renal anomalies, and laryngo-tracheo-bronchial clefts.
In the absence of other associated life-threatening congenital anomalies, this condition can be managed successfully with early gastric augmentation leading to toleration of increasing amounts of oral feeding.
www.orpha.net /static/GB/microgastria__limb_reduction_defect.html   (336 words)

  
 Welcome to the TEF / Vater® Web Site!
It lies behind the trachea and follows the same path as the trachea but where the trachea branches into two parts of the lung the esophagus continues down through a hole in the diaphragm and joins or connects with the stomach where food is digested and then passed in to the intestines.
With the addition of the letter C for cardiac (heart) and the letter L for limb anomalies that include the hand,fingers arms and legs the acrinyn continued to grow.
This couple was heart broken and after a couple of weeks this mom had also taken her life because she felt she caused her babies birth defect.
www.tefvater.org /vater.html   (2736 words)

  
 Paediatric origins of adult lung diseases {bullet} 5: Adult outcome of congenital lower respiratory tract malformations ...
The use of "nonanatomic" pulmonary resection in infants with extensive congenital adenomatoid malformation of the lung.
A minimum of 50% of predicted lung weight, DNA or total lung volume is needed for survival in infants with congenital diaphragmatic hernia (CDH).
Long-term pulmonary sequelae in survivors of congenital diaphragmatic defects.
thorax.bmjjournals.com /cgi/content/full/56/1/65   (5190 words)

  
 Rubinstein Taybi Syndrome
A moderately-sized defect may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body (congestive cardiac failure).
The lungs may be abnormally divided into small extra sections (lung lobulation) and/or the walls of the voice box (larynx) may be weak and easily collapsible, potentially resulting in swallowing and breathing difficulties (e.g., temporary cessation of normal breathing rhythm during sleep [sleep apnea]).
Affected infants may also have defects affecting the development of the front portion of the brain (forebrain), potentially resulting in malformations of the center (midline) of the brain and the head and facial (craniofacial) area.
hw.healthdialog.com /kbase/nord/nord461.htm   (4398 words)

  
 Dr. Heart's High Yield - ValueMD Medical Schools Forum
The five leading causes of death are heart disease, cancer, cerebrovascular disease, COPD and accidents/adverse effects.
Porphyrias are defects of porphyrin metabolism, leading to buildup of toxic metabolites.
Severe combined immunodeficiency disease (SCID) is a rare disorder characterized by a genetic defect in stem cells that results in the absence of the thymus gland and t and b cells.
www.valuemd.com /usmle-step-1-forum/17320-dr-hearts-high-yield.html   (11254 words)

  
 Intrinsic aetiology
The quirky sense of humour that researchers display in choosing a gene name often loses much in translation when people facing serious illness or disability are told that they or their child have a mutation in a gene such as Sonic hedgehog, Slug or Pokémon.
Clinical manifestations include severe skeletal defects resembling vitamin D—resistant rickets, failure of the calvarium to calcify, early loss of primary teeth, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes (bowing).
A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.
focosi.immunesig.org /intrinsicaetiology.htm   (10291 words)

  
 VACTERL (vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb defects) ...
Hydrocephalus occurring in conjunction with defects which are included in VACTERL association (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects).
Two basic forms are recognized: The David-O'Callaghan syndrome and the Hunter-MacMurray syndrome which are almost identical, except for cardiovascular malformations which are present only in the first type and the mode of transmission.
Cardiovascular system: Ventricular septal defect, atrial septal defect, transposition of the great vessels, anomalous pulmonary venous return, Eisenmenger complex (dextroversion of the aorta), hypertrophy of heart ventricles, and tetralogy of Fallot.
www.nlm.nih.gov /mesh/jablonski/syndromes/syndrome641.html   (273 words)

  
 [No title]   (Site not responding. Last check: 2007-10-31)
The main aim of the present study was to classify cases of birth defects whether they are isolated or multiple, to identify the genetic etiology of cases and to evaluate the genetic versus environmental components of birth defects.
Our study supported the hypothesis that consanguinty is an important risk factor in the causation of birth defects, environmental factors have a definite effect in the present study and computer is an important tool in the diagnosis of genetic diseases.
In these patients defect of each extremity may be scored from 5 (maximal defect with absence of the whole limb) to 1 (equivalent forms of ectrodactyly).
mail.medacad.org /www.ichg2001.org/abstracts/clinical.htm   (9164 words)

  
 ORPHANET® : Base de données sur les maladies rares et les médicaments orphelins
Lissencephaly type 1, due to LIS 1 anomalies
Lissencephaly, type 1, isolated, without known genetic defects
Lissencephaly, X linked, with agenesis of the corpus callosum
www.orpha.net /Pat/GBL.html   (81 words)

  
 eMedicine - Trisomy 18 : Article by Harold Chen, MD, MS, FAAP, FACMG   (Site not responding. Last check: 2007-10-31)
A wide spectrum of heart defects is seen.
Diagnosis of heart malformations can be made reliably, even in the first trimester at the time of nuchal translucency measurement.
Bersu ET, Ramirez-Castro JL: Anatomical analysis of the developmental effects of aneuploidy in man-- the 18-trisomy syndrome: I. Anomalies of the head and neck.
www.emedicine.com /ped/topic652.htm   (2499 words)

  
 [No title]
Associated with erythema nodosum, cutaneous pustular vasculitis, also synovitis, CNS vasculitis involving brain stem, thrombophlebitis, and positive pathergy response.
irregular respirations,,, Cushing’s ulcer,"acute ulcer of the stomach, proximal duodenum, or esophagus, frequently leads to hemorrhage or perforation, associated with intracranial injury or increases in intracranial pressure, associated with gastric acid hypersecretion",,, D’Espine’s sign,"breath sounds louder over C7 than adjacent lung, suggests lesion in posterior mediastinum, e.g.
right ventricular hypertrophy",,, Fanconi’s anemia,"autosomal recessive, predisposal to aplastic anemia, progressive bone failure at age 5-7, congenital malformations (frequently defects in thumbs or forearms, kidneys, GI, skin); 20% develop cancer (primarily AML but also in skin, GI, GU); diagnosed by seeing increased sensitivity of FA cells to bifunctional alkylating agents (e.g.
www.eponyms.net /eponyms.csv   (354 words)

  
 Post 109047 Forums PLAB USMLE   (Site not responding. Last check: 2007-10-31)
In arrested rotation of midgut & subsequent volvulus neonatorum - peritoneal band from the caecum which is on left side to right side - obstructs the 2nd part of duodenum.
C5,6 affected - upper cord lesion - hand cannot be flexed & pronated - lies limp by the side - "porter's tip" position, sensory loss over lateral side of UL & thumb & index finger.
Seen in rachitic bones - radioluscent transverse lines in the XR, usually on the concave side of the bone not extending to the opposite cortex.
www.aipge.com /postp109047.html   (4083 words)

  
 Orthopaedics Syndromes Second Page
CAO (1977) - AGENESIS OF CORPUS CALLOSUM; MICROCEPHALY
GORLIN (1971) - CLEFT PALATE; OLIGODONTIA; STAPES FIXATION;CARPAL ANOMALIES
PACHYGYRIA AND AGENESIS OF THE CORPUS CALLOSUM (X-LINKED)
freeortho.com /syndromes2.html   (1167 words)

  
 aneamia and triphalangeal thumbs Resource Page - aneamia and triphalangeal thumbs
Symphalangism with multiple anomalies of hands and feet
Thank you for reading the aneamia and triphalangeal thumbs Resource Page - aneamia and triphalangeal thumbs.
This information was brought to you courtesy of wikipedia.org
www.cydaily.com /med-Medical/aneamia_and_triphalangeal_thumbs.html   (183 words)

  
 Congenital Weakness
Normal adults: Present in muscle but not heart
CMD with Adducted Thumbs, Ophthalmoplegia and Mental retardation
Duane anomaly + Radial ray abnormalities and Deafness (DRRS; Okihiro syndrome)
www.neuro.wustl.edu /neuromuscular/syncm.html   (2677 words)

  
 Contractures
Atrial rhythm disturbances and paralysis; A-V conduction defects
Conduction defects and arrhythmias: Monitor with annual EKG's
Face: Eye defects; Large nose and ears; Overhanging upper lip; Micrognathia
www.neuro.wustl.edu /neuromuscular/msys/contract.html   (829 words)

  
 OMIM Update List for March, 2004
Clinical Synopsis for 216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL
602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
606215 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1
www.ncbi.nlm.nih.gov /Omim/dispmonthly.cgi?3.2004   (2183 words)

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