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Results 251 - 300 of 910
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Kwan Kenny - - 2009
Arthrogryposis is a non-progressive disorder with congenitally soft tissue contractures affecting two or more joints. It can be sporadic, or inherited in an autosomal dominant or recessive fashion. Typically, in the upper limb, the shoulder is in adduction and internal rotation, the elbow is in extension with a lack of ...
Patrianakos Alexandros P - - 2008
Noncompaction myocardium of the left ventricle (LV) is a genetically heterogeneous congenital cardiomyopathy, that has only been described during the last two decades. Echocardiography plays a pivotal role as a first line diagnostic tool of this rare abnormality. The present case describes the imaging of the noncompacted myocardium using varying ...
Spinelli Claudio - - 2008
Congenital diaphragmatic hernia (CDH) presents a wide spectrum of anatomical variants and clinical pictures depending on the topography and dimensions of the diaphragmatic defect and on the patient age. Most CDH cases acutely present with tachypnea, cyanosis, and respiratory failure within the first minutes to hours of life. Despite significant ...
Jang Chul Ho - - 2008
We report here on a case of congenital cholesteatoma that extended into the internal auditory meatus and cochlea. A 17-year-old boy underwent surgery for a very large cholesteatoma, which was discovered behind an intact tympanic membrane. Pure tone audiometry revealed an unresponsive ear. High resolution temporal bone computed tomography showed ...
Kannan Lakshminarayanan - - 2008
BACKGROUND: In utero exposure to carbimazole for maternal hyperthyroidism has been reported to cause choanal atresia. There are case reports of patent vitello-intestinal duct and Meckel's diverticulum in similar association. CASE: We report another such instance of an infant who was exposed to carbimazole in utero, presenting with bilateral choanal ...
Vera Jesus A - - 2008
Combined atrial septal defect and pulmonic stenosis, while a common occurrence in children, is relatively uncommon in adults. There is no widely accepted order in which the defects should be corrected. We report a case that highlights the hemodynamics and the technical dilemma of deciding which lesion to correct first.
Kumar Basant - - 2008
Oroparyngeal tumors in neonates protruding from the mouth are extremely rare. They have the potential to cause respiratory distress, or even death of the child during the perinatal period owing to airway obstruction and may need a multidisciplinary team approach at the time of birth. Congenital epulis and epignathus are ...
Datta K - - 2008
Fibular Hemimelia is a rare congenital disorder of deficiency to complete absence of fibula. It has been associated with post axial skeletal anomalies like shortening of femur, absence of lateral rays of foot and syndactyle, polydactyle etc. We report this case because of associated amniotic constriction bands over both the ...
Mabongo M - - 2008
Congenital epulis (CE) is an uncommon granular cell lesion of unknown pathogenesis and uncertain histogenesis that presents at birth. It is a benign hamartoma that may interfere with feeding and respiration. The treatment of CE is by simple excision. In the 136 years since CE was first described, more than ...
Di Costanzo Alfonso - - 2009
The congenital form of myotonic dystrophy type 1 (CDM1) has an almost exclusively maternal transmission and is characterized by mental retardation and by moderate/severe ventriculomegaly and white matter hyperintensities on brain magnetic resonance imaging (MRI). We report a 20-year-old case of CDM1 with paternal inheritance showing mental retardation and normal ...
Schreml S - - 2008
Neurocutaneous melanosis (NCM) is a rare congenital noninheritable phacomatosis characterized by large and/or numerous cutaneous congenital melanocytic naevi (CMN) in combination with melanocytic leptomeningeal tumours. Dandy-Walker malformation (DWM) consists of a cystic dilatation of the fourth ventricle communicating with the posterior fossa, and a high insertion of the tentorium and ...
da Gama Malch?r Marco - - 2008
A rare case of a 28-year-old Asiatic male with the isolated absence of a posterior cruciate ligament is reported. Clinical features, diagnostic steps, therapeutic strategies and follow-up are described. A review of the literature is also presented.
García de Guilarte Ruben Fernández - - 2009
A case of successful reduction glossectomy for idiopathic macroglossia is presented. Macroglossia varies in its degree of severity. With pronounced macroglossia, respiratory and feeding difficulties may ensue. Persistent macroglossia leads to speech problems and anterior open bite. The cause of macroglossia must be clearly defined, and true macroglossia separated from ...
Anwar Ashraf M - - 2008
Double orifice mitral valve (DOMV) is a rare congenital malformation described as division of mitral orifice into two anatomically distinct orifices separated by an accessory bridge of fibrous tissue. In 85% of cases, both orifices are unequal in size. It is usually associated with other congenital defects such as atrioventricular ...
Mateo Isidro - - 2008
A foetal cat exhibiting multiple congenital malformations and meeting the criteria for being considered as a case of true schistosoma reflexum (SR) is described. SR in animals is briefly compared with relatively similar malformation entities in humans. Murine gene mutations producing severe ventral body wall defects associated with anomalies of ...
Carr Michael - - 2008
Congenital aneurysms of the muscular interventricular septum are rare. We report the diagnosis of such an aneurysm by fetal echocardiography at 19 weeks' gestation and the subsequent follow-up through early neonatal life, with the ultimate progression to a dilated cardiomyopathy requiring cardiac transplantation. This case highlights the early diagnosis of ...
Sankilampi Ulla - - 2008
Congenital Langerhans cell histiocytosis (LCH) is a rare condition with great diversity. A case of congenital skin-only LCH presenting as a "blueberry muffin baby" with a spontaneous regression by the age of 8 months is reported here. New insights into clinical manifestations and prognosis, which is not uniformly positive, are ...
Al-Ammar Ahmed Y - - 2008
OBJECTIVE: To assess the role of the use of nasal stent (NS) on the outcome of choanal atresia (CA) surgeries, as well as the effect on the age at the time of surgery. METHODS: The study involved a retrospective review of the files of the case with the diagnosis of ...
Gonçalves Carrasquinho S - - 2008
PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, ...
Smets Koenraad - - 2008
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment ...
Heyer Geoffrey L - - 2008
BACKGROUND AND PURPOSE: PHACES syndrome is a neurocutaneous disorder of unknown etiology. We studied the spectrum of associated congenital and progressive cerebral vascular anomalies. METHODS: The medical records of 7 patients with PHACES syndrome were reviewed and combined with an additional 108 PHACES cases identified from the literature. We reviewed ...
Kumar Basant
Cantrell&#x2032;s pentalogy with ectopia cordis is an extremely rare and lethal congenital anomaly, with a reported incidence of 1:100000 births in developed countries. We report a neonate who presented with ectopia cordis along with cleft lower sternum, upper abdominal wall defect, ectopic umbilicus, diaphragmatic defect, and interventricular septal defect. The ...
Goyal Abhishek
Congenital arhinia or absence of nose is a rare condition with only 30 cases reported so far. We report a rare case and briefly review the literature.
Al Kaissi Ali - - 2008
Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal ...
Lim Rodrick K - - 2008
Difficulty breathing is a common presenting complaint for infants in the emergency department (ED). Periodic breathing, respiratory or systemic infection, and congenital heart disease are common diagnoses in this age group. We report the case of a male neonate presenting to the ED on multiple occasions with respiratory distress and ...
Pandey A - - 2008
Jejunoileal atresia is a congenital anomaly that is characterized clinically by bilious vomiting and abdominal distension. It has been associated with various congenital anomalies but its association with mesenteric cyst has only been reported sporadically. As this is a very rare entity, it is being reported with a brief review ...
Hasosah Mohammed M University of British Columbia, Vancouver, - - 2008
Congenital short bowel syndrome (SBS) is a rare condition of the newborn, with several reports demonstrating high mortality. A six-week-old boy presented with chronic diarrhea and failure to thrive. An upper gastrointestinal endoscopy showed a straight duodenum, and multiple small bowel biopsies were histologically normal. An upper gastrointestinal series showed ...
Riehle-Colarusso Tiffany - - 2007
BACKGROUND: One of the challenges in epidemiologic studies of congenital heart defects (CHDs) has been the lack of a current, standard nomenclature and classification system. Recently such a standard nomenclature became available from the Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database. This study reports the classification of cases ...
Bhagat Shaishav B - - 2007
We present two cases of ichthyosiform erythroderma associated with severe bilateral genu valgum. Other musculoskeletal features associated with this condition are described. The details and outcome of operative intervention for the correction of the deformities are discussed. The disturbances of the metabolism of vitamin D and medical management are discussed. ...
Janjua Shahbaz A - - 2007
Piebaldism is a rare autosomal dominant disorder characterized by congenital poliosis and leukoderma. We present a case of a 10-year-old girl with a typical clinical presentation, followed by a concise review of the literature discussing the etiology, clinical features, diagnosis, and management of the condition.
Stroup Sean P - - 2007
Spontaneous umbilical drainage is an uncommon problem in the adult, for which various congenital or acquired conditions may be responsible. In this paper, we present 3 cases demonstrating an approach that avoids the need for expensive diagnostic imaging. A careful office exam and basic laparoscopic skills are all that is ...
Tongo O O - - 2007
Holoprosencephaly is a rare congenital malformation resulting from failure of cleavage of midline structures of the forebrain and face. It affects 0.49-1.2 in 10,000 births around the world. The nature of this condition in African children is not well documented in literature. We present a cluster of three cases of ...
Tutarel Oktay - - 2007
BACKGROUND AND AIM OF THE STUDY: Duplication of an atrioventricular valve is a rare congenital anomaly, with only single cases of double-orifice tricuspid valves (DOTV) having been identified. Because of its rarity, the clinical spectrum of this entity remains obscure. METHODS: A literature search was conducted using databases and search ...
D'Argenio A - - 2007
Neurocutaneous melanosis (NCM) is known as a rare phakomatose characterised by large or numerous pigmented congenital nevi associated with leptomeninges melanin-containing deposits. We report a case of a newborn presenting at birth with a giant nevus covering about 40% of the total body surface. MRI showed T1 hyperintensities in the ...
Persaud R - - 2007
Cholesteatoma is a non-neoplastic, keratinising lesion which has two forms: congenital and acquired. Congenital cholesteatoma develops behind a normal, intact tympanic membrane, whilst acquired cholesteatoma is associated with a defect in the tympanic membrane. The pathological substrate of cholesteatoma is keratinising stratified squamous epithelium, but the origin of this epidermal ...
Molnár Szabolcs - - 2007
STUDY DESIGN: Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity. OBJECTIVE: As there are lack of similar cases in the literature, we would like to introduce a case of a patient with associated malformations, the consultations that we consider that ...
Gonçalves Ricardo V - - 2007
Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare disease first reported by Cohen et al in 1985. To date only 13 cases of this disease have been reported. This entity is characterized by the presence of erosions and vesicles at birth, usually affecting about 75% ...
Prabhu Somnath J - - 2007
A case report is described of a patient with cerebral palsy and Meckel's diverticulum presenting with congenital atrioventricular (AV) block. There is limited information of congenital heart block in adults, because most literature has been devoted to congenital heart block in childhood. This unique case is discussed with other patient ...
Vinayan K Puthenveettil - - 2007
A case of congenital bilateral perisylvian syndrome (CBPS) associated with bilateral perisylvian schizencephaly in a 24-year-old woman is reported. She presented the classical clinical triad of CBPS, which included congenital facio-masticatory diplegia, epilepsy and only mild mental retardation, despite the presence of bilateral, open-lip clefts in the perisylvian region. We ...
Demirseren Mustafa Erol - - 2007
In this paper, we report a case of a 14-year-old girl with congenital aplasia of the flexor pollicis longus tendon who had no other associated anomalies of thumb hypoplasia and no trauma history. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in ...
Genc Gurkan - - 2007
Congenital extremity anomalies have many modes of presentation. Interruption of vascular supply with thrombophily is a rare cause of congenital extremity absence. Here it is presented a 7 mth old male with absence of the left lower extremity. Laboratory tests revealed Factor V Leiden and Prothrombin G20210A heterozygote mutation and ...
Kim Cheol Hong - - 2007
Although congenital renal tumors are rare, congenital mesoblastic nephroma (CMN) is the most common renal tumor in early infancy. It is non-metastatic, well differentiated, amenable to surgical removal, and carries a good prognosis. Polyhydramnios has been detected in most of the published cases of CMN. However, we experienced a rare ...
Pasku Dritan - - 2007
A rare case of a wide congenital atlas defect is reported. A 25 year-old woman was admitted after complaints of radicular pain in the right arm. Radiographs incidentally revealed aplasia of the posterior arch of the atlas together with anterior rachischisis. A review of the literature is presented and a ...
Agresta F - - 2007
Two cases of internal herniation through a defect in the broad ligament of the uterus are described. Both were successfully treated laparoscopically. This rare condition should be borne in mind when a middle-aged woman presents with colicky lower abdominal pain. The cause is unknown, but both congenital and acquired origins ...
Montaudon M - - 2007
The authors report two cases of congenital pericardial defect and emphasize the role of MRI as a diagnostic tool. A review of the development of the pericardium and of the various possible explanations dealing with these abnormalities is then presented. Finally, clinical data and diagnosis and therapeutic options are discussed.
Tandar Anwar - - 2007
Left ventricular (LV) diverticulum is a rare congenital abnormality for which the etiology, management, and natural history are very poorly understood. Although most often observed as a single diverticulum, we report a case of multiple LV diverticuli in an asymptomatic adult referred for coronary evaluation due to an abnormal electrocardiogram. ...
Chow P C - - 2007
OBJECTIVE: To review the management and outcome of babies with antenatally diagnosed congenital cystic adenomatoid malformation. DESIGN: Retrospective cohort review. SETTING: Tertiary neonatal care unit at Queen Mary Hospital and antenatal diagnostic centre at Tsan Yuk Hospital. PATIENTS: Consecutive patients with antenatally suspected congenital cystic adenomatoid malformation in their concepti ...
Muthu Senthil Kumar - - 2007
Congenital bony defects of the atlas are uncommon; with isolated posterior clefts being the most frequent anomaly and combined anterior and posterior defects the least common, occurring in only 0.3-0.7% of the population. These anomalies can cause confusion, particularly in the setting of trauma when appearances on plain radiography may ...
St─ânescu Ligia - - 2007
Erythrokeratodermia represents a group of rare genetic diseases characterized through disorders of keratinization. Clinically, they are presenting themselves with erythematous and hyperkeratosic lesions that can be persistent or variable as to their aspect and localization. They were classified in erythrokeratodermia variabilis (EKV) and erythrokeratodermia symmetric progressive (EKSP). We are presenting ...
Prieto Juan C - - 2007
Congenital midureteral stricture is an uncommon cause of prenatal hydronephrosis, and it is generally associated with proximal hydroureteronephrosis . We report a unique case of a congenital severe midureteral dilatation associated with mild proximal ureteral dilatation and normal distal ureteral diameter. The dilated midureter was excised, and an open end-to-end ...
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