Search Results
Results 201 - 250 of 1144
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Koh Clare - - 2009
Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive ...
Mangones Tania - - 2010
Congenital cardiovascular malformations (CCVMs) are the most common forms of congenital defects, contributing to morbidity and mortality in neonates but information on the association of CCVMs and race is limited. This study aims to determine prevalence of congenital cardiovascular malformations (CCVMs) in the Hudson Valley Region (HVR) of NY State ...
Berber R - - 2009
Congenital pseudarthrosis of the tibia is a complex and rare condition of infancy. Long bone pseudarthrosis is strongly linked to neurofibromatosis, a common genetic disorder in which pseudarthrosis tends to occur early. This report describes a similar emergency department presentation in a 4-month-old infant with subsequent diagnosis of neurofibromatosis type ...
Thiagalingam Sureka - - 2009
This report describes the corneal pathology in an infant with newborn primary congenital glaucoma and discusses whether these findings could be due to a developmental anomaly. The corneal specimen of a 4-month-old infant with newborn primary congenital glaucoma and cloudy corneas who had undergone penetrating keratoplasty was evaluated by light ...
Karadeniz Leyla - - 2009
Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born ...
Mundinger Gerhard S - - 2009
Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of ...
Orioli Iêda M - - 2009
BACKGROUND: One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. METHODS: An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, ...
Winch Peter D - - 2009
BACKGROUND: There is a paucity of literature discussing the predictive likelihood of successfully extubating neonates and infants in the operating room immediately following congenital cardiac surgery. Given the unknown consequences of anaesthetics on neurodevelopmental outcomes, minimising the exposure of this population to such agents may have long-term benefits. METHODS: Retrospective ...
Deshpande S A - - 2009
BACKGROUND: The presence of isolated single umbilical artery (SUA) in infants has been associated with an increased risk of occult renal malformations. However, the need for routine postnatal renal imaging of such infants, especially in an era of now routine antenatal fetal sonography, is controversial. AIM: To determine the prevalence ...
Tunc T - - 2009
The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical ...
Malhotra A - - 2009
We present the antenatal cardiac findings in an infant in whom a postnatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) was confirmed. The antenatal findings at 34 weeks' gestation included biventricular cardiac hypertrophy with pericardial effusion, multiple skeletal anomalies and cerebral ventricular dilatation. A severe CDG-Ia multisystem clinical ...
Zagólski O - - 2009
Vestibular-evoked myogenic potentials and caloric tests in infants with congenital rubella. OBJECTIVE: Congenital rubella is rare due to maternal vaccination, but vestibular function can be markedly impaired in affected infants. Currently, vestibular testing is not routinely performed in infants. This study evaluated inner ear function in infants with congenital rubella. ...
Harris Susan R - - 2008
Identifying the underlying cause of congenital hypotonia remains difficult, despite advances in diagnostic laboratory and imaging techniques. Clinical evaluation strategies and standardized developmental tests can assist in differentiating hypotonia resulting from primary involvement of the upper motoneuron (central hypotonia) versus that involving the lower motoneuron and motor unit (peripheral hypotonia). ...
Tabari A M - - 2008
OBJECTIVE: To retrospectively audit and analyse all the Transfontanelle Neurosonographic scans performed at the Aminu Kano Teaching Hospital (AKTH), between January to September, 2004. METHODS: Information on the gray scale appearance of the ventricles, cerebral and cerebellar parenchyma, extra axial fluid spaces, status of the sulci and gyri and the ...
Bukowinski Anna T - - 2008
Haemangiomas are common, benign, vascular tumours, observed in 4-12% of infants during the first year of life. Most cases progress without complication, yet a small proportion experience life-threatening complications. Concomitant congenital malformations have been reported in a small but significant proportion of haemangioma patients. This study aimed to describe haemangioma ...
Lelli Gary J GJ - - 2008
An otherwise healthy 1-month-old female infant presented with a congenital nasal appendage in the left medial canthal region with associated left-sided nasal hypoplasia. The diagnosis of proboscis lateralis was made, and a 2-stage excision and reconstruction was performed in conjunction with probing and irrigation of the lacrimal system. The patient ...
Swamy Ravi - - 2008
OBJECTIVE: The birth prevalence and malignant tumour recurrence of sacrococcygeal teratoma (SCT) have not been clearly defined. We conducted this study to determine the birth prevalence, prenatal detection rate, frequency of tumour recurrence and outcome of SCT in a population-based cohort. METHODS: Cases were identified from a population-based, regional database ...
Cohen-Overbeek T E - - 2008
OBJECTIVES: To determine whether the pre- or postnatal diagnosis of either isolated or non-isolated duodenal obstruction (DO) is associated with different outcomes. METHODS: A single-center retrospective analysis was carried out of 91 cases diagnosed with a DO between January 1991 and June 2003. Data on the diagnosis, treatment and outcomes ...
Poretti Andrea - - 2009
There is increasing evidence that the cerebellum is susceptible to both prenatal infections and haemorrhages as well as being vulnerable in extremely preterm babies, but not to perinatal and postnatal hypoxic-ischaemic injuries. Starting with the imaging appearance we describe and illustrate a spectrum of prenatal cerebellar disruptions: cerebellar agenesis; unilateral ...
Castilla Eduardo E - - 2008
Sirenomelia and cyclopia share etiologic and pathogenic characteristics. A cluster of these two patterns of malformation in the city of Cali, Colombia, is described. Four sirenomelia and four cyclopia cases were born within a 165 days period in one hospital in Cali. The lapse between conception dates of first and ...
Kuo Chien-Hung - - 2008
BACKGROUND: Congenital vocal cord paralysis (VCP) is a common cause of congenital stridor. Before the widespread application of flexible bronchoscopy (FB) by pediatricians, congenital stridor in infants was usually attributed to laryngomalacia. Prompt recognition and careful follow-up is crucial for the management of congenital VCP. METHODS: We performed a retrospective ...
Brand M Colleen - - 2008
Although scoliosis at birth is rare, conditions at birth and in the newborn period predispose newborns to the development of scoliosis in later life. Scoliosis is congenital when associated with abnormal vertebral segmentation regardless of the age of diagnosis. Other conditions may predispose neonates to vertebral damage or the development ...
Rocha G M - - 2008
AIM: The aim of the study was to review our experience in the management of newborns with congenital diaphragmatic hernia (CDH). METHODS: A retrospective study including all infants with CDH at the Hospital de São João, a center that does not provide ECMO support, for the period from 1997 to ...
Marangoni A - - 2008
Positive syphilis serology was noted in 119 (0.49%) of the 24 053 pregnant women delivering at St Orsola Hospital in Bologna, Italy, from November 2000 through July 2007. Six presumptive cases of congenital syphilis with IgM western blot positive results were found. Two infants had a positive cerebrospinal fluid (CSF) ...
Van den Broek Mieke J A - - 2009
Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of ...
Hunter Alasdair G W - - 2008
Gastroschisis is a major malformation which requires immediate surgical care to return the exposed viscera to the abdominal cavity, parenteral nutrition until bowel motility permits oral feedings, and evaluation for coexisting malformations. Almost all cases are diagnosed prenatally using midtrimester ultrasound and maternal serum alphafetoprotein measurement. This allows most infants ...
Rocha G M - - 2008
AIM: The aim of the study was to review our experience in the management of newborns with congenital diaphragmatic hernia (CDH). METHODS: A retrospective study including all infants with CDH at the Hospital de São João, a center that does not provide ECMO support, for the period from 1997 to ...
Campos Mauricio A - - 2008
BACKGROUND: There is a normal transition from the kyphotic alignment that is present in the spine of the newborn to the normal sagittal contours that are present in the adult spine. Although abnormal kyphosis at the thoracolumbar junction in infants is rare, it can result from congenital anomalies and bone ...
Williams A N - - 2009
John Locke (1632-1704) is primarily remembered for his highly influential philosophical works regarded as the engine of the Enlightenment. It is less well known that Locke also was a highly regarded and influential physician. In 1666, Locke performed a postmortem examination of an 18-month-old child who had physical signs of ...
Puhó Erzsebet H - - 2008
PURPOSE: To evaluate maternal age and birth order, in addition socioeconomic status and finally occupational background of mothers who delivered babies with different isolated ocular congenital abnormalities. METHODS: The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002 was used and the evaluation of maternal variables was based ...
Al-Futaisi Amna - - 2008
Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient ...
Singh Avninder - - 2008
Atypical teratoid /rhabdoid tumor (AT/RT) of the central nervous system is a rare but highly aggressive neoplasm that usually affects young children and infants and follows a rapidly fatal course. We report a case of AT/RT in a 3-month-old male infant who also had coincidental unilateral congenital cataract even though ...
Khan Arif O - - 2008
PURPOSE: To report the genetic basis for congenital glaucoma with clinical aniridia in an infant and a milder phenotype in her mother. METHODS: Prospective case series. RESULTS: An infant girl with almost complete lack of iris tissue was referred and treated for congenital glaucoma. Although the presumed clinical diagnosis was ...
Pober B R - - 2008
Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000-1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are ...
Lin Ching-Chun - - 2008
BACKGROUND: There are no published studies focusing on adverse birth outcomes or infant mortality in the semiconductor industry. AIM: To investigate whether female workers have higher risks of any adverse birth outcome or death from congenital malformation. METHODS: A total of 27,610 female workers had been employed in eight semiconductor ...
Cooper William O - - 2008
PURPOSE: To assess the positive predictive value of computerized records in a linked database of vital records and infant claims, with medical record confirmation to detect congenital malformations in a Medicaid population. METHODS: Study subjects were selected from cases identified for three studies of congenital malformations in the Tennessee Medicaid ...
Martínez-Frías María Luisa - - 2008
Most studies associating different types of malformations with the presence of a single umbilical artery (SUA) are based on small and selected series. Here, we present the results of a study aimed at identifying the most frequent, and the most specific anomalies related to SUA. We analyzed 19,909 consecutive newborn ...
Salihu Hamisu M - - 2008
OBJECTIVES: To assess infant mortality patterns associated with Dandy-Walker syndrome (DWS) and the impact of concomitant anomalies. METHODS: Data for this study were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system. RESULTS: The 196 cases of DWS had a high infant mortality rate ...
Shaw Jacquelyn - - 2008
Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. Some of these anomalies have no medical significance, but merely provide clues to suggest the diagnosis. The most common form of trisomy 18 is the nondisjunction type, which affects every cell of the body with ...
Barisic Ingeborg - - 2008
Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the ...
Chaney Kristin P - - 2007
Congenital anomalies of the urinary tract in horses may be difficult to diagnose and treat. Presenting complaints are variable and include weight loss, depression, dysuria, hematuria, and mild colic. Although the most severe abnormalities are diagnosed in the neonate, some diseases, such as ectopic ureter(s), may be identified in older ...
Sunday-Adeoye I - - 2007
BACKGROUND: The presence of a congenital malformation at birth is a cause of anxiety at an otherwise joyous occasion. Congenital malformations are a significant contributor to perinatal mortality. STUDY DESIGN: A retrospective study of external congenital abnormalities in singleton and twin births in rural eastern Nigeria over a 20 year ...
Acherman Ruben J - - 2007
OBJECTIVE: Congenital cardiac malformations are common developmental anomalies. In the United States, congenital heart disease is the number one cause of infant mortality from congenital malformations. Prenatal diagnosis of congenital heart defects aids treatment coordination. Our aim was to evaluate prenatal detection of serious congenital heart malformations in Clark County, ...
Matteelli A - - 2007
The cases are described of two infants who developed clinical and laboratory signs of congenital syphilis in Northern Italy, a region where the disease had not been documented for several years. The report urges greater vigilance and screening for syphilis among pregnant women and newborns, and contributes to the evidence ...
Wikner Birgitta Norstedt - - 2007
BACKGROUND: Exposure to Benzodiazepines (BZD) during foetal life has been suggested to contribute to neonatal morbidity and some congenital malformations, for example, orofacial clefts. Here we aimed to study the neonatal outcome and congenital malformations in neonates whose mothers reported use of BZD and/or hypnotic benzodiazepine receptor agonists (HBRA) during ...
Rahajoe Anna Ulfah - - 2007
At a crude rate in Indonesia of 20 births per 1000 population, the total number of annual live-births is approximately 4.5 million. Considering the estimate of 9 of each 1000 affected live-births, 40,500 infants with congenitally malformed hearts are added every year to the total pool. The number of surgical ...
Cole J Alexander - - 2007
PURPOSE: To refine a preliminary analysis identifying a possibly increased prevalence of malformations among infants born to women exposed to paroxetine in the first trimester. METHODS: This study used data from UnitedHealthcare, a large U.S. insurer, using datasets originally for a study of bupropion in pregnancy. We identified women with ...
Davis Robert L - - 2007
PURPOSE: To evaluate risks for perinatal complications and congenital defects among infants exposed in utero to antidepressants. METHODS: We identified 2201 women who were prescribed an antidepressant during pregnancy and who delivered an infant within one of five large managed care organizations (HMO). Prescription drug dispensings and inpatient and outpatient ...
Dean John - - 2007
The malformations found in fetal anticonvulsant syndromes (FACS) are associated with folic acid deficiency and methylene-tetrahydrofolate reductase (MTHFR) polymorphisms in the general population. To investigate a possible association between FACS and MTHFR genotype, we recruited 200 mothers who had taken anti-epileptic drugs in pregnancy, and delivered at Aberdeen Maternity Hospital ...
Cleves Mario A - - 2007
BACKGROUND: Many infants with Down syndrome (DS) have co-occurring congenital malformations requiring intensive surgical and medical management. To anticipate the care needed by these infants, providers and parents require accurate information about birth defects that may be present. This article uses a unique national hospital discharge dataset to identify the ...
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