Search Results
Results 301 - 350 of 938
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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 ...
Stănescu 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 ...
Kodsi Sylvia - - 2006
Methicillin-resistant Staphylococcus aureus (MRSA) has emerged as an important pathogen responsible for serious ocular and systemic disease. MRSA has been reported to occur in dacryocystitis in the adult population. This is the first case report of community-acquired MRSA in the pediatric population in association with chronic dacryocystitis secondary to congenital ...
Semaan Maroun T - - 2006
The pathogenesis of middle ear cholesteatoma continues to be highly debated. In recent years, there has been a substantial improvement in the understanding of the pathophysiology of this disease. This chapter provides a summary of the history and evolution of cholesteatoma and a review of the recent literature that pertains ...
Lee Jae Hoon - - 2006
Nasal septum perforations or defects can have a variety of causes. Defects of the septum tend to occur in the antero-inferior region. We report two cases of congenital vomeral defect of the septum detected during nasal endoscopy. Neither of the patients in this report had any nasal surgery, trauma, infectious ...
Soto-Hurtado Enrique Javier - - 2006
Tracheal diverticulum is a rarely encountered entity. It may be congenital or acquired, the difference residing mainly in the histologic features of the wall. Most cases are asymptomatic, but when symptoms are present they are usually nonspecific. Congenital diverticulum is not normally detected in infancy unless it is suggested by ...
Martinez-Regueira Soledad - - 2006
Aplasia cutis congenita is a rare condition characterized by congenital absence of the epidermis, dermis, and subcutaneous tissue. It may occur as an isolated defect or associated with other anomalies. This study sought to determine the frequency of this condition over a 10-year-period at the single hospital for a well-defined ...
Chidzonga M M - - 2006
A case of the management of a congenital double lower lip in a 2-week-old female child: is described. The mother stated that the child was having difficulties when suckling and was also worried about the unsightly appearance. The redundant lower lip was excised under general anaesthesia. The child made an ...
Blaivie Catherine - - 2006
Intrasphenoidal meningoencephalocele is a rare clinical entity. Its origin can be congenital, traumatic, tumoral, or spontaneous. Presenting as cerebrospinal fluid fistula with rhinorrhea, the diagnosis and treatment of this uncommon disease is a real challenge for the otorhinolaryngologist. We report a case of sphenoidal meningocele treated using an endoscopic procedure ...
Alicioglu Banu - - 2007
A case of a 10-year-old boy with hypoplasia of the flexor pollicis longus and without other associated anomalies and trauma history is reported. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered to the conditions ...
Shivakumar S K - - 2006
Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes ...
Maheshwari Rajat - - 2006
Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down's syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of congenital bilateral severe upper ...
Riedlinger Wolfram F J - - 2006
Congenital cystic adenomatoid malformation (CCAM), intralobar sequestration (ILS), extralobar sequestration (ELS), and lobar emphysema (LE) are well-accepted entities; however, certain findings are common to all, particularly the parenchymal maldevelopment characterizing CCAM. Isolated reports have described bronchial atresia (BA) in some specimens in all 4 entities, but this finding has not ...
Palloshi Altin - - 2006
Non-compaction of the ventricular myocardium (NCVM) is a rare disorder of myocardial morphogenesis usually diagnosed in paediatric age associated with high mortality rates. Among reported cases, NCVM has been described in only six patients > or = 70 years. We describe the case of a 74-year-old male with NCVM involving ...
Osahon A I AI Department of Ophthalmology, University of Benin Teaching Hospital, Benin City, - - 2006
Congenital ocular anomalies are the result of defective development of the ocular tissues during intrauterine life. The aim of this study was to increase awareness amongst Ophthalmologists and other healthcare providers on some cogenital ocular anomalies seen in clinical practice. The 5 cases presented in this study were cases seen ...
Norton Seamus P - - 2006
Congenital intrahepatic arterioportal fistula is a rare but treatable cause of portal hypertension for which early recognition may lead to successful radiological management. We report an infant presenting with severe failure to thrive, melena and splenomegaly due to a congenital intrahepatic arterioportal fistula, successfully ablated after multiple trials of superselective ...
Priglinger Siegfried G - - 2006
The pulsed electron avalanche knife (PEAK-fc, Carl Zeiss Meditec) is an electrosurgical cutting device that allows precise "cold" and traction-free tissue dissection. We describe its applicability and safety for anterior capsulotomy in a child with congenital cataract and an adult patient with mature cataract. The PEAK-fc was set at a ...
Ho Chi-Lin - - 2006
Atrial septal defect (ASD) and patent ductus arteriosus (PDA) are common congenital heart defects and usually isolate. The combination of these two defects is infrequent. Nowadays, both defects are amenable to transcatheter closure, without surgery. However, both defects by transcather closure was rarely reported. Here we report that two children ...
Doğan Omer Faruk - - 2006
Congenital lobar emphysema is cause of infantile respiratory distress and diagnosed by lobar overaeration, mediastinal shift and/or compression of the adjacent lobe. However, concomitant congenital heart disease with this clinical condition is not uncommon, and there is no uniform consensus about the treatment strategy in these particular cases. We present ...
Shams Mohammad Ghasem - - 2006
Congenital fusion of the mandible and maxilla is a rare anomaly usually seen in association with various syndromes. Reports of isolated cases of bony fusion of the jaws are sparse. Only 10 reported cases were found in the literature search. Maxillomandibular fusion restricts mouth opening, causing feeding problems and difficulties ...
Shivakumar S K, Dwarakanath ...
Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes ...
Vogt Gábor - - 2006
AIMS: The aim of the study was to estimate the prevalence at birth of different ocular congenital abnormalities and to describe their birth characteristics in Hungary. METHODS: Two data sets were evaluated: the national-based Hungarian Congenital Abnormality Registry and the Hungarian Case-Control Surveillance of Congenital Abnormalities which include cases with ...
Ozcan K - - 2006
In this report, an atypical form of cyclopia is described in a stillborn Brown Swiss cross male calf. The changes were confined to the head. The most significant malformation was the presence of a median orbita-like opening that did not contain an eyeball. Other defects included prosencephalic aplasia, brachygnathia superior ...
Bütter Andreana - - 2006
Congenital pulmonary arteriovenous malformations (AVMs) are rare lesions, usually asymptomatic. We report on the case of a baby who was thought to have a congenital cystic adenomatoid malformation of the left upper lobe based on prenatal and postnatal imaging. Final pathology revealed a congenital pulmonary AVM. Neither the child nor ...
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