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Results 301 - 350 of 1180
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Khemchandani Sajni - - 2007
Variations in the anatomy of the hymen are common and imperforate hymen is an extreme manifestation. In spite of the recommendations for early inspection of the external genitalia, hymenal malformations escape diagnosis until the time of menarche. Rarely, female infants with imperforate hymen present with urologic complications. We would like ...
Laye M Ryan - - 2007
OBJECTIVE: To describe the prenatal diagnoses and clinical outcomes of congenital diaphragmatic hernia (CDH). METHODS: A retrospective case series was developed by reviewing 16,983 ultrasounds performed between March 2003 and January 2006 for the prenatal diagnosis of CDH. Medical records of each mother/infant pair were reviewed for demographic information, ultrasound ...
Ceylan Kursat - - 2007
Congenital choanal atresia (CCA) is the developmental failure of the nasal cavity to communicate with nasopharynx. Surgical repair is recommended in the first weeks of life in bilateral cases because this is a life-threatening situation in newborns. This paper is a case report of a 7-day-old full term girl infant ...
Carta Maurizio - - 2007
Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of major congenital malformations (MCM) in the fetus. AED-related abnormalities include heart and neural tube defects, cleft palate, and urogenital abnormalities. Among the various congenital anomalies of the kidney and urinary tract (CAKUT), multicystic dysplastic kidney (MCDK) disease is one of ...
Dubnov-Raz Gal - - 2007
Asymmetric crying face (ACF) is a minor anomaly found in 3-8 per 1,000 births, which may be associated with other anomalies. Previous studies on this topic included small groups of selected subjects, resulting in large variations in findings. The aim of this study was to examine the characteristics and associated ...
Källén Bengt - - 2007
OBJECTIVE: To study the risk for congenital malformations among infants whose mothers used anti-asthmatic drugs during pregnancy. MATERIALS AND METHODS: We studied 24,750 infants whose mothers reported the use of anti-asthmatic drugs in early pregnancy. Infants were identified from the Swedish Medical Birth Register where drug use reported at the ...
Lizama Macarena - - 2007
Isolated preauricular tags (IPT) are considered minor malformations whereas nephrourological anomalies (NUA) are considered major malformations. Their incidences fluctuate between 5 and 10 per 1,000 and 1-3 per 100 live births, respectively. There is contradictory evidence regarding the incidence of NUA in infants with IPT. The objective of this study ...
El Kholy Mohamed - - 2007
In the last decade a high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in a cohort of children with confirmed primary CH due to thyroid dysgenesis was investigated. ...
Stoll C - - 2007
Infants with neural tube defects (NTDs) may have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. The prevalences at birth of associated malformations ...
Stavropoulos Franci - - 2007
Congenital epulis of the newborn is a rare soft tissue manifestation that affects infants, involving predominantly the maxillary ridge. When identified, generally at birth, excisional biopsy is recommended to avoid feeding and respiratory disturbances. This article presents a case report of a female infant who was referred to an oral ...
Huang Hsuan-Rong - - 2007
The purpose of this study was to delineate the etiology and the clinical features of liveborn neonates with hydrops fetalis, and to explore the prognostic factors for survival. Medical records of 28 liveborn neonates with hydrops fetalis between April 1995 and March 2005 were reviewed retrospectively. Demographic data, clinical manifestations, ...
van de Kamp J M - - 2007
There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like ...
Kajbafzadeh Abdol-Mohammad - - 2006
PURPOSE: We present a minimally invasive endoscopic approach for the treatment of persisting mesonephric duct in male infants. MATERIALS AND METHODS: Five male infants 2 to 8 months old were referred with a history of recurrent sepsis, epididymo-orchitis and anorectal malformation that was treated elsewhere with initial colostomy. All infants ...
Ghose Supriyo - - 2006
PURPOSE: Controversy exists regarding the relationship between nasal pathology and congenital dacryocystitis. The recent advent of nasal endoscopes has greatly improved visualization of deep and hidden areas of nasal anatomy and has led to the elaboration of nasal anatomical variants and pathologies that were previously unknown. The current study aimed ...
Golalipour Mohammad Jafar - - 2007
The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of ...
Lim Louis - - 2006
PURPOSE: To study ethnicity and other possible factors that may affect the incidence of echogenic intracardiac foci (EIF) when detected via sonographic examination. MATERIALS AND METHODS: Patients were referred to our institution for sonographic evaluation from a wide range of practice formats, including both private obstetric practices as well as ...
Wu Yvonne W - - 2006
Clinical and neuroimaging characteristics of congenital hemiparesis were examined in a retrospective cohort study nested within 199,176 births within the Kaiser Permanente Medical Care Program, 1997-2002. Infants with a physician diagnosis of paresis or cerebral palsy were electronically identified, and charts were reviewed to confirm congenital hemiparesis. A neuroradiologist reviewed ...
Goddard Deborah S - - 2006
The association consisting of posterior fossal malformations, cervicofacial, hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting, or supraumbilical raphe, refers to the occurrence of congenital structural and vascular anomalies in the presence of a facial hemangioma. We report a patient with this association, growth retardation, and developmental delay ...
Heimann Konrad - - 2007
Congenital absence of the trachea is a rare anomaly that might confront the obstetrician or neonatologist with an unexpected emergency. These patients present with cyanosis, severe respiratory distress, insufficient gas exchange, absence of audible crying and difficult or impossible endotracheal intubation. In more than 90% it is associated with further ...
Curtis Logos - - 2006
OBJECTIVES: To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics. METHODS/RESULTS: Ultrasonography at 23 weeks of gestation of a 37-year-old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child ...
Rocha Gustavo - - 2006
INTRODUCTION: Pleural effusions are rare in the neonate and may be associated to several clinical conditions. Only a few series of pleural effusions in the fetus and newborn are described in the literature. AIM: This study was undertaken to determine more accurately the causes and prognostic significance of pleural effusions ...
Yoshita Tsuyoshi - - 2006
A 9-month-old infant had bilateral corneal opacity with erosion in the inferior corneas. Clinical examination suggested the infant had congenital alacrima. After 1 week, both corneas perforated with collapsed anterior chambers. Therapeutic soft contact lenses with ofloxacin ointment 4 times daily were successful, and the perforations sealed within 1 week.
Wainwright H C - - 2006
An opportunity to determine the cause of death, factors that may have a role in it, and the extent and cause of malformations is provided by perinatal autopsy. The family may be assisted in finding closure after the death of their infant by the information obtained. Insight into classifying infants ...
Messineo Antonio - - 2006
Sirenomelia is an extremely complex and rare malformation with different degrees of lower-extremities fusion associated with gastrointestinal, musculoskeletal, vascular, cardiopulmonary, and central nervous system malformations. In the English literature, there are only 5 reports of infants surviving with this condition. In our case, a 2540-g female infant was born with ...
Cooper William O - - 2006
BACKGROUND: Use of angiotensin-converting-enzyme (ACE) inhibitors during the second and third trimesters of pregnancy is contraindicated because of their association with an increased risk of fetopathy. In contrast, first-trimester use of ACE inhibitors has not been linked to adverse fetal outcomes. We conducted a study to assess the association between ...
Tulandi Togas - - 2006
OBJECTIVE: To evaluate the incidence of congenital malformations among offspring of mothers who conceived with clomiphene citrate (CC) or with letrozole treatment for infertility. DESIGN: Retrospective study. SETTING: 5 fertility centers in Canada. PATIENTS: 911 newborns from women who conceived following CC or letrozole treatment. INTERVENTIONS: Examination of medical files ...
Ozkan Keramettin Ugur - - 2006
A wide spectrum of anomalies can be associated with Pierre Robin sequence. This report presents a 3-day-old infant with micrognathia, U-shaped cleft palate, low-set right ear with microtia, glossoptosis, esophageal atresia, and right congenital radioulnar synostosis. The association of congenital radioulnar synostosis and esophageal atresia with Pierre Robin sequence has ...
Metry D W - - 2006
PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque-like, "segmental" hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalies, and ventral developmental defects, specifically sternal defects and/or supraumbilical raphe. ...
Yamaguchi K - - 2006
This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS ...
Keles Sevgi - - 2006
Although congenital defects of diaphragma often occur in the period immediately following birth, 10-20% of these cases are diagnosed later. We report on a 7-month-old male infant with late-presenting congenital diaphragmatic hernia associated with a thoracic ectopic kidney. We conclude that congenital diaphragmatic defects should be considered in young children ...
Mogyorosy Gabor - - 2006
AIMS: To evaluate the quality of cardiac and surgical care provided for children with congenital cardiac malformations in the eastern county of Hungary. METHODS: We used the method of clinical audit based in selection of criterions, developing five such criterions concerning timely diagnosis, access to treatment, and outcome. To examine ...
Kohda Ehiichi - - 2006
This article describes the specific radiological findings of congenital lipoid adrenal hyperplasia (lipoid CAH) in a phenotypic female and karyotypic 46XY infant. Radiological examination showed enlarged bilateral adrenal glands with fatty accumulation and spared medulla. These findings are key to differentiating lipoid CAH from the diseases that cause adrenal insufficiency ...
Gilbreath Susan - - 2006
OBJECTIVE: To determine if women living in Alaska Native villages with open dumpsites ranked as higher hazard have higher rates of adverse pregnancy outcomes than women living in villages with sites that have lower hazard rankings. Adverse pregnancy outcomes examined included fetal and neonatal death and congenital anomalies. STUDY DESIGN: ...
Yang Wei - - 2006
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a severe birth defect of unknown etiology. The aims of the current report were to extend the literature on the descriptive epidemiology of CDH and to determine whether its mortality rate decreased in California during the study period. METHODS: Using data from a large ...
Lugo Alexander - - 2006
Congenital syphilis is a rare and serious disease that, although preventable, continues to be a major healthcare problem. Its clinical spectrum ranges from an asymptomatic infection to fulminating sepsis or death. A diagnosis of congenital syphilis was made in an 8-week-old infant whose mother had adequate prenatal care. We present ...
Verrotti Alberto - - 2006
Epilepsy is a common medical problem and many studies have demonstrated that infants of women with epilepsy (WWE) have a two to threefold higher risk of congenital malformations compared with the background population. The majority of WWE have normal, healthy children. However, WWE have an increased risk of congenital malformations. ...
Nzeh D A - - 2006
A retrospective study was done to determine the incidence of congenital malformation of the brain among African infants over a 5 year period. Transfontanelle ultrasound (US) was performed on 98 infants consisting of 45 males and 53 females. The mean age was 2.6 months (range 1-11 months). Congenital malformation was ...
Neis A E - - 2006
Linear nevus sebaceous is a hamartomatous lesion most commonly seen on the face and head of infants and diagnosed after birth. We describe a patient with sonographic findings of linear nevus sebaceous seen initially at 30 weeks' gestation. Other associated sonographic findings include macrocephaly and polyhydramnios. When associated with a ...
Aite Lucia - - 2006
OBJECTIVE: To assess the applicability of Drotar model when the diagnosis of congenital malformation is made antenatally. METHODS: In a 3-year period (2000-2003) fifty mothers, counselled for fetal malformations amenable to surgical correction at birth, were interviewed. Statistical associations were sought between each stage of the adaptation process and type ...
Groves Ruth - - 2006
AIM: The objective of this study is to define the incidence of chromosomal and congenital anomalies in neonates with exomphalos major and minor. BACKGROUND: Incidence of major congenital anomalies varies from 35% to 81% in exomphalos. It is unclear whether these malformations are more common with exomphalos major. MATERIAL AND ...
Phaloprakarn Chadakarn - - 2006
Fetal surgery is a treatment option for fetuses with congenital cystic adenomatoid malformation (CCAM) of the lung who develop hydrops before 32 weeks of gestation. We report on a fetus with CCAM and hydrops who underwent subtotal resection of a huge right, lower lobe CCAM at 20 weeks of gestation. ...
Thyen Ute - - 2006
BACKGROUND: In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies. METHODS: We used the registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting institutions for information on phenotype, laboratory tests, imaging results, diagnosis, ...
ZapaƂowicz Katarzyna - - 2006
Ichthyoses belong to the group of genodermatoses, characterized by hyperkeratosis and desquamation of the epidermis. Clinical manifestation is heterogeneous and depends on the type of the disease. Harlequin foetus is the most severe form of congenital ichtyosis, inherited as an autosomal recessive trait. The disfunction of the epidermis begins prenatally. ...
Acs Nándor - - 2006
The common cold is the most frequent maternal disease during pregnancy. The possible association between different congenital abnormalities and the common cold in pregnant women was evaluated in the data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of 22,843 cases with congenital abnormalities, 3,827 ...
Górska-Kot Aneta - - 2006
This paper presents results of data collection regarding congenital heart defects (CHD) for the Polish Registry of Congenital Malformations (PRCM) from the Podkarpacie province in 2002-2004. Routine methods (fetal echocardiography, clinical examination) and recently also unique methods (screening echocardiography and pulse oximetry) were used for early detection of critical cardiac ...
Daniel Samuel J - - 2006
The upper airway extends from the nasal aperture to the subglottis and can be the site of multiple types of congenital malformations leading to anatomical or functional obstruction. This can cause severe respiratory distress. Newborns are obligate nasal breathers; therefore nasal obstruction can lead to airway compromise and respiratory distress. ...
Skarsgard Erik D - - 2006
There has been a recent trend of improved outcomes for most infants born with surgically correctable congenital malformations, despite the fact that current surgical treatment is not standardized, with wide variations in practice among institutions. Because care for these infants is multidisciplinary, it is difficult to ascertain with clarity the ...
Low Y - - 2006
OBJECTIVE: Genital anomaly (GA) carries a risk of life-threatening comorbidity which is not well defined and is under reported. We aimed to determine the associated anomalies in children with GA who died. MATERIALS AND METHODS: We retrospectively reviewed the deaths among all GA patients presenting to our institution over 32 ...
Pharoah Peter O D - - 2005
Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies ...
- - 2005
In 2004, an independent panel convened by CDC declared rubella no longer endemic in the United States. Nine cases of rubella were reported in 2004, and four cases of congenital rubella syndrome (CRS) were reported during 2001-2004. However, worldwide, an estimated 100,000 infants are born with CRS annually. This report ...
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