Search Results
Results 301 - 350 of 1157
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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 ...
Häberle Johannes - - 2005
Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death. Glutamine was largely absent from their serum, urine, and ...
Chan Y-C - - 2005
We report two female infants with congenital midline supraumbilical raphes who subsequently developed haemangiomas on the lower lip and gingiva within the first 2 months of life. One was found to have a subglottic haemangioma during laryngoscopy. The infants were otherwise well and had normal chest X-ray, echocardiogram, cranial ultrasound, ...
Sangtawesin Varaporn - - 2005
BACKGROUND: Syphilis remains an important sexually transmitted disease and continues to be an important problem in Thailand. Despite the clinical efficiency of penicillin in the treatment of pregnant patients with syphilis, infants with congenital syphilis are still encountered. Congenital syphilis poses significant challenges for the clinician because infants may be ...
Deshpande S A - - 2006
To determine whether infants with isolated minor anomalies of the external ear are at increased risk of renal malformations. Consecutive infants with isolated minor anomalies of the external ear (preauricular skin tags, preauricular sinuses, ear pits, and misshapen pinnae) were offered renal ultrasonography by experienced sonographers over a 41 month ...
Hahnemann Johanne M D - - 2005
We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from two other blood samples showed a normal karyotype, 46,XY. DNA analysis with six PCR-based microsatellite ...
Hofstaetter C - - 2005
We report on two siblings who presented prenatally with a ductus venosus (DV) that was abnormally located between the middle hepatic vein (mHV) and the proximal inferior vena cava (IVC), and with hepatomegaly. The first case presented with polyhydramnios at 33 weeks and therapeutic amniocentesis resulted in premature delivery soon ...
Fraser Nia - - 2005
A premature infant with a unique form of tracheal agenesis is described. The combination of difficulty in intubation, abnormal course of the nasogastric tube on plain x-ray, and gastric perforation raised the suspicion of an upper airway malformation. Tracheal agenesis is an extremely rare, typically fatal, congenital anomaly with scattered ...
Palmer Stephen R - - 2005
Concern that living near a particular landfill site in Wales caused increased risk of births with congenital malformations led us to examine whether residents living close to 24 landfill sites in Wales experienced increased rates of congenital anomalies after the landfills opened compared with before they opened. We carried out ...
Agarwal Salil - - 2006
Tracheal agenesis is a rare and uniformly lethal congenital malformation. It presents with severe respiratory distress at birth. In this anomaly there is a congenital absence of the trachea and the bronchus communicates with the esophagus. The diagnosis should be suspected in newborn infant with respiratory distress whose intubation is ...
Dolk H - - 2005
The surveillance of congenital anomalies serves two main purposes: to facilitate the identification of teratogenic (malformation causing) exposures and to assess the impact of primary prevention and prenatal screening policy and practice at a population level. EUROCAT, the European network of population based registers for the epidemiological surveillance of congenital ...
Rankin J - - 2005
AIMS: To describe trends in total and live birth prevalence, regional differences in prevalence, and outcome of pregnancy of selected congenital anomalies. METHODS: Population based registry study of 839,521 births to mothers resident in five geographical areas of Britain during 1991-99. Main outcome measures were: total and live birth prevalence; ...
Maiya Shreesha - - 2005
We report a case of a 4-week-old male infant who presented with increasing respiratory distress and was diagnosed to have bilateral congenital lobar emphysema on chest x-ray. Our approach to the surgical management in two sequential operations of left upper lobectomy followed by right middle lobectomy is discussed.
Al Hosani H - - 2005
The National Congenital Anomalies Register is a population-based register covering all births in the United Arab Emirates. We evaluated the progress of the register and determined the prevalence of congenital anomalies (CAs) and associated maternal and neonatal risk factors. Total prevalence of CAs for 1999-2001 was 7.89/1000, 10.95/1000 and 7.92/1000 ...
Finnigan Daniel F - - 2005
BACKGROUND: Atresia Ani (AA) is one of the most common malformations of the lower gastrointestinal tract. It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 ...
Bonnet Damien - - 2005
The respiratory syncytial virus is the most common cause of infection of the lower respiratory tract in infants and young children, and is the leading cause of hospitalisation and death due to viral illness during the first year of life. In otherwise healthy infants, the virus usually causes only mild ...
Al-Katawee Yousef A - - 2005
Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic ...
Kelly Amy - - 2005
BACKGROUND: Intracranial arteriovenous fistulas (AVFs) are rare in childhood. AVFs in fetuses are very rare and usually not associated with the vein of Galen. These can be solitary or multiple and may be associated with aneurysms or AVMs. The presentation of an AVF depends on the age of the patient, ...
Hsieh C C - - 2005
OBJECTIVE: We evaluated the outcome of fetuses diagnosed with having congenital cystic adenomatoid malformation (CCAM) on ultrasonographic examination and managed conservatively. METHODS: A retrospective study of 19 cases of CCAM diagnosed antenatally in our hospital was conducted between 1990 and 2001. Complete clinical information was available for all patients, with ...
Travitz Julie - - 2005
Malformations surveillance programs of newborn infants have been developed as a method for identifying serious and relatively common birth defects. The virilization of newborn infants with the classic 21-hydroxylase form of congenital adrenal hyperplasia must be identified early if the associated metabolic crisis in the perinatal period is to be ...
Källén Bengt - - 2005
BACKGROUND: The possible excess of congenital malformations in infants born after in vitro fertilization (IVF) has been much discussed in the literature, with controversial conclusions. This population based study is aimed at analyzing the presence of congenital malformations in a large group of infants born after IVF and to compare ...
Goldstein Israel - - 2005
OBJECTIVE: Hemivertebra is a rare congenital spinal anomaly where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We aimed to determine the incidence and clinical characteristics of hemivertebra. PATIENTS AND METHODS: We present three fetuses with a prenatal ...
Kazy Zoltán - - 2005
The objective of the study presented here was to check the effect of oral ketoconazole treatment on fetal development. Ketoconazole has been given a teratogenic classification of C by the US Food and Drug Administration, but human controlled epidemiological studies of the treatment's effects have not been reported. The occurrence ...
Tomiyama Hideki - - 2005
Cryptorchidism is the commonest congenital genitourinary anomaly in males and results when the testis does not descend into its normal intrascrotal position during development. In full-term infants, the incidence is approximately 3% at birth. Cryptorchidism results in several abnormalities, including attenuated spermatogenesis, infertility and a greater risk of malignancy. The ...
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