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Ha You Jin - - 2010
A 6-day-old infant presented with a deeply bluish cystic mass below the right medial canthus. She had been born healthy. Under the impression of a hemangioma brain computed tomography was conducted. As a result, a diagnosis of congenital dacryocystocele was made. We present this case to show that it is ...
Tiraboschi Iris Carla Niveyro IC Infectious Diseases Division, Hospital de Clínicas José de San Martín University of Buenos Aires, Buenos Aires, Argentina. - - 2010
We describe a case of congenital acquired candidiasis in a preterm female delivered through Caesarean section due to the premature rupture of the amniotic membrane. The neonate presented with suspected chorioamnionitis and erythematous desquamative skin. Candida albicans was isolated from the placenta, mouth, groin, and periumbilical lesions. The infant developed ...
Dolk Helen - - 2010
EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% ...
Mazen I - - 2010
BACKGROUND: External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications. AIM: To detect the incidence of external genital anomalies and disorders of sex development (DSD) in Great Cairo and Qalyubiyah ...
Shinder Roman - - 2010
A generally healthy male infant was born with unilateral congenital eversion of the upper eyelid causing considerable conjunctival injection and chemosis. Conservative medical management with topical lubrication and antibiotics resolved the condition within a few days.
Licéaga Rodrigo - - 2010
This article presents 3 cases of infants with congenital ranula, a rare salivary gland pathology. Pathophysiology is discussed, differential diagnosis, and different treatment choices are explained.
Simpson Angela - - 2010
Sensitization to pets is a major risk factor for asthma. There are many reports on the relationship between household pets, sensitization to the pet, and sensitization to other allergens, often with conflicting results. Pet ownership is not random, and household pets are associated with exposures other than pet allergens. We ...
Fidancı Kürşad - - 2010
The effect of ghrelin on growth of the newborn has long been argued, but not fully clarified. In this study, we aimed to investigate the relationship between ghrelin levels and growth parameters in the first 3 months of life. The study included 60 babies (27 girls and 33 boys) born ...
Thompson Amanda L - - 2010
While the activation of the infant hypothalamic-pituitary-gonadal axis and the existence of a postnatal gonadotropin surge were first documented in the early 1970s, study of the longitudinal development of gonadal hormones in infancy, and the potential physiological and behavioral correlates of this development, have been hampered by reliance on infrequent ...
Pei Li-Jun - - 2009
OBJECTIVE: To provide evidence for more accurate diagnosis of birth defects based on the pathoanatomy of congenital malformations. METHODS: Data used in this study were obtained from Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead ...
Kulkarni Kalpana - - 2009
In infants & children variety of conditions and syndromes are associated with difficult Airway. Anaesthetic management becomes a challenge if it remains unrecognized until induction and sometimes results in disaster, leading to oropharyngeal trauma, laryngeal oedema, cardiovascular & neurological complications. A 4-month-old child with multiple congenital anomalies was posted for ...
Tzur Tamar - - 2011
To identify the incidence, risk factors, and perinatal outcome of newborns with congenital finger or toe (digital) anomalies. A retrospective study including all neonates born at a tertiary medical center during 2001-2006 with congenital digital anomalies was conducted. The comparison group consisted of newborns without such anomalies born during the ...
Vijayasekaran D - - 2010
This retrospective analysis documents the usefulness of fiberoptic bronchoscopy in finding the etiology of 56 cases of unresolved atelectasis in infancy, over a two year period (June 2005 to May 2007). Fiberoptic bronchoscopy identified the etiology leading to a revised diagnosis and change in management strategy in 38 (67.8%) cases, ...
Ramesh R - - 2009
A female infant, born with a tufted angioma, developed a coagulopathy with prolonged bleeding time, with the risk of progression to Kasabach-Merritt phenomenon. The difficulty in this case was judging the degree of this risk and therefore the most appropriate management. We opted for a conservative approach of observation, which ...
Ben Hamouda H - - 2009
Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by ...
Kanamori Yutaka - - 2010
Infants with severe congenital anomaly often need to undergo operation followed by antibiotic therapy. As a result they inevitably acquire abnormal intestinal microbiota, which cause severe infections such as necrotizing enterocolitis. Also, intestinal function deteriorates and their nutritional state is very poor. In order to prevent these situations probiotic therapy ...
Guardiola Ana - - 2009
BACKGROUND: Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS) occurs in 21% of cases. OBJECTIVE: To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto Alegre. METHOD: Case-control study ...
van der Linden Marieke H MH Erasmus MC-Sophia Children's Hospital, Rotterdam, The - - 2009
Acute lymphoblastic leukemia (ALL) diagnosed in the first month of life (congenital ALL) is very rare. Although congenital ALL is often assumed to be fatal, no studies have been published on outcome except for case reports. The present study reports the outcome of 30 patients with congenital ALL treated with ...
Ergaz Zivanit - - 2009
OBJECTIVE: To determine the underlying etiology, associated malformations, clinical course, and prognostic significance of congenital chylothorax. STUDY DESIGN: A retrospective analysis of 11 neonates admitted to our neonatal intensive care unit with congenital chylothorax between January 2000 and June 2008. The post-discharge clinical and developmental course was evaluated by a ...
Densupsoontorn N N Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. - - 2009
A 6-month-old male infant who presented with abdominal distension and congenital chylous ascites was diagnosed. He was initially refractory to conservative therapy, and then was completely cured with ligation of megalymphatics and fibrin glue application. Immunoperoxidase staining for CD31 on the biopsied peritoneal tissues highlighted the lining cells of lymphatic ...
Vivero Richard J - - 2010
Congenital agenesis of the sternum is an extremely unusual malformation rarely encountered by the practicing Otolaryngologist. It typically arises in conjunction with other midline ventral congenital anomalies, including abdominal, diaphragmatic, and cardiac malformations. We report a case series of two patients managed with tracheotomy placement due to prolonged intubation. The ...
Hernandez-Martin Angela - - 2009
Plate-like osteoma cutis is widely thought to be present at birth, but it has never been illustrated in early infancy until now. We report on an infant that presented with congenital plate-like osteoma cutis, showing the earliest clinical aspect of the lesion and its initial morphologic changes.
Yuasa Motoyuki - - 2009
Recently, the effects of environmental risk factors including chemical compounds and parents' lifestyles on the health of the next generations have widely gathered public concerns around the world because of the vulnerability of children to such environmental risk factors. To elucidate the processes and mechanisms of the effects in more ...
Acerini C L CL Department of Paediatrics, University of Cambridge, Cambridge, UK. - - 2009
Recent studies in other European countries suggest that the prevalence of congenital cryptorchidism continues to increase. This study aimed to explore the prevalence and natural history of congenital cryptorchidism in a UK centre. Between October 2001 and July 2008, 784 male infants were born in the prospective Cambridge Baby Growth ...
Ferede Atakelet - - 2009
Colonic atresia, unlike small intestine atresia, is a rare congenital malformation. Congenital absence of the entire colon is exceptionally rare. Moreover, an association of omphalocele and complete absence of the colon has not yet been reported in the literature. We present an infant born with such combination of congenital anomalies.
Noyes N - - 2009
Over the past decade, the number of reported live births resulting from oocyte cryopreservation has rapidly increased. To appreciate the true number of children born, verified live births were tabulated and assessed. A literature search was performed; authors were then contacted to verify birth outcomes and provide updates. A database ...
Chen Bing-Yu - - 2009
BACKGROUND/PURPOSE: Congenital anomalies are important medical and public health conditions. However, the occurrence rates of congenital anomalies and their risk factors are unknown in Taiwan. We used the medical-practitioner-reported birth registry in 2002 to determine the occurrence of individual congenital anomalies and their associated risk factors, such as maternal age, ...
Fusco Carlo - - 2009
A 3-year-old female infant with Charcot-Marie-Tooth disease type 1A had congenital pes cavus, normal motor development, and duplication of the peripheral myelin protein 22 gene, PMP22. Her father, carrying the same gene duplication, developed neuropathy, tremor, and auditory impairment beginning in early adulthood. This is a case of congenital pes ...
Parisi Melissa A - - 2009
A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with congenital diaphragmatic hernia (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, cleft palate, congenital heart defect, digital anomalies, and dysmorphic facial features. ...
Ashmeade Terri - - 2009
Neonates with congenital diaphragmatic hernia (CDH) often have other major malformations. Anatomic airway anomalies associated with CDH include congenital stenosis, pulmonary hypoplasia, and abnormal bronchial branching. We describe an infant with CDH who, after developing recurrent upper-lobe atelectasis, was found to have a right tracheal bronchus. This clinically significant anomaly ...
Sethi Sonia - - 2009
Only 2 neonates with transplacentally or perinatally acquired (congenital) babesiosis have been reported. We describe a probable third congenital case of babesiosis in a 26-day-old infant; transmission was determined on the basis of a blood smear from the infant (15% parasitemia) and serologic results from the infant and mother.
Swamy Ravi - - 2009
AIM: Talipes is a congenital anomaly that can be corrected conservatively or surgically. Despite advances in management, a proportion of pregnancies still result in termination. We therefore aimed to establish the birth prevalence, interventions and outcome of talipes in our population. METHODS: Cases with foetal talipes were identified from the ...
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 ...
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