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Results 351 - 400 of 912
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Sinha D D - - 2005
A case of congenital parotid lipomatosis in an infant is reported and literature is reviewed. This rare condition in children presents as gradually increasing parotid swelling, which is difficult to diagnose preoperatively as this condition is not considered in the differential diagnosis of a parotid mass. Complete excision with superficial ...
Bhat A K - - 2005
Macrodactyly is a rare congenital anomaly characterized by large digits. The usual involvement of macrodactyly is on the pre-axial side of the limb. There has been only one case report to date with involvement of both hands and feet in a child with post-axial upper limb involvement. We report an ...
Akhtar Jamshed - - 2005
Two cases of congenital pyloric atresia (CPA) are, hereby, reported. One was suspected on antenatal ultrasound and turned out to be an isolated anomaly. Other patient had a rare association of aplasia cutis congenita with congenital pyloric atresia. The lesions of aplasia cutis congenita were multiple while congenital pyloric atresia ...
Klinger Marco - - 2005
A rare case of isolated congenital bone agenesis in a young woman referred to the authors for aesthetic correction of the dorsum profile is described. There are no descriptions of surgical treatment for this isolated facial defect in the literature. After a complete and accurate diagnostic study, a rhinoplasty was ...
Cauchi John A - - 2005
Often misdiagnosed as primary megaureter or pelviureteric junction obstruction, congenital ureteral stenosis and valves are the main causes of congenital ureteric obstruction. We report three consecutive cases of congenital ureteric strictures presenting with antenatally diagnosed hydronephrosis. Two of our cases had a contralateral multicystic dysplastic kidney. We discuss the aetiology, ...
Eskild-Jensen Anni - - 2005
PURPOSE: The natural history of and optimal treatment for asymptomatic congenital hydronephrosis is unknown, mainly because most published series are nonrandomized or retrospective with nonstandardized followup regimens. In this survey we provide an overview of the different strategies used for the treatment of congenital unilateral hydronephrosis. MATERIALS AND METHODS: A ...
Sanatkumar S - - 2005
Benign fibrous histiocytoma is such a rare tumour that only a few cases have been reported in the literature. A patient with an apparently benign lesion of the distal radius, along with congenital dislocation of the radial head, was presented at St. John's Medical College Hospital in Bangalore, India. Pain ...
Kurto─člu Selim - - 2005
A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae. Following corticosteroid and mineralocorticoid therapy for disease, the acanthosis nigricans resolved. It is believed that this is the first reported case of acanthosis nigricans ...
Puvaneswary M - - 2005
Primary double-chambered right ventricle is an uncommon congenital anomaly that presents with right ventricular outflow tract obstruction in childhood or adolescence. A search of the literature revealed only a few documented case reports with MRI findings. We present a case with mixed lesions, and with anomalous muscle bundles located both ...
Arpaia Nicola - - 2005
BACKGROUND: Regression of congenital melanocytic nevi is usually accompanied by the halo phenomenon and is considered a rare event. OBJECTIVE: A 15-year-old woman presented for the evaluation of multiple halo nevi. She had on her trunk a figure-of-eight pigmentary lesion, which had been developed after the coalescence of two distinct ...
Ryu Jung-Ho - - 2005
Soft tissue chondromas are rare benign tumors unrelated to bone that arise primarily in the distal extremities, especially in the fingers of middle-aged adults. We report an extremely rare case of congenital soft tissue chondroma, arising in the left great toe of a new-born infant. The present case is, to ...
Vun Y Y - - 2005
An 8-year-old boy born prematurely at 26 weeks' gestation presented with a reticulate scar on the left cheek. This started as an eroded area on day 3 postpartum, followed by crusting and scarring. There were also linear scars on the left forearm, left lower back and abdomen. The clinical picture ...
Patrianakos Alexander P - - 2005
Ventricular septal defect (VSD) is the most frequent congenital heart disease in adults, with equal distribution in both sexes, and has an incidence of about 20% in children. In adults congenital VSDs represent about 10% of all cases and the mortality at age 60 is around 75%. For elderly patients ...
Smith Joseph L JL - - 2005
Laryngomalacia is a common congenital laryngeal abnormality. Despite its being widely discussed in the literature, the pathophysiology is not clearly understood. Both anatomic and neuromuscular theories have been suggested to explain laryngomalacia. We report 4 cases of laryngomalacia in which the presenting signs occurred during sleep. Awake flexible nasopharyngolaryngoscopy failed ...
Al-Assiri Ali - - 2005
Intrathoracic stomach is a rare and serious congenital abnormality. The anomaly may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. If diagnosed antenatally, neonatal management can be planned in advance so as to reduce morbidity. This anomaly must be differentiated from the more ...
Lenane Patsy - - 2005
Alopecia areata, the alleged autoimmune process leading to nonscarring hair loss, is not uncommon. It has been classified as an acquired cause of alopecia; however, recently it has been reported in the neonatal period. We report 4 cases of congenital alopecia areata with follow-up from 3 to 5 years. The ...
Tanrikulu R - - 2005
Congenital alveolar synechiae is rarely seen as an isolated disease. It is generally observed together with various syndromes such as Van der Woude and cleft palate lateral alveolar synechiae syndrome, and is concomitant with other anomalies in the maxillofacial or other regions of the body. Prior to this case report ...
Balci Sevim - - 2005
Omphalocele, or exomphalos, is a rare defect of the periumbilical abdominal wall in which the coelomic cavity is covered with peritoneum only, resulting in congenital eventration of abdominal contents at the base of the umbilical cord. The etiology is still unknown. In this paper a new case of omphalocele with ...
Olson Jaret L - - 2005
Congenital epulis is a rare benign hamartoma of the alveolar ridge found in the newborn. The clinical characteristics of this lesion show some variability, and opinion of its pathogenesis lacks consensus. Congenital epulis can cause feeding or respiratory compromise. A case report and review of the literature is presented. The ...
Chibber Percy Jal - - 2005
Aphallia is known to be a very rare congenital malformation, with an occurrence of 1 in every 30 million births; only 75 cases have been reported in the literature till recently (Hendren WH. J Urol 1997; 157: 1469-1474). Gender reassingnment is recommended for the affected newborns in infancy (Elder JS. ...
Mathur Neeraj N - - 2005
Bleomycin is an established antineoplastic drug, but recently some attempts were made to inject it locally as a sclerosing agent in cases of congenital lymphatic malformations. We present the outcome of this treatment modality tried on 10 paediatric cases of whom 9 had such malformation in the cervical region and ...
Mathur Neeraj N - - 2005
We report here a case of arhinia with its complete manifestation, which is a very rare congenital abnormality. The newborn had complete absence of external nose with that area being totally flat and firm on palpation. A tracheostomy was performed on this child as the parents insisted on early discharge ...
Antonio Andréa Gonçalves - - 2005
Congenital syphilis is an infectious disease transmitted by an infected mother to her fetus. Several reports in the literature have focused on oral manifestations of congenital syphilis, mainly about Hutchinson's teeth and dysplastic molars, which are more common. However, this paper describes an unusual feature of congenital syphilis in a ...
Acosta Frank L FL - - 2005
Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by large or multiple congenital melanocytic nevi and benign or malignant melanocytic tumors of the leptomeninges. The authors report the case of a 5-month-old girl with congenital giant melanocytic nevi who presented with symptomatic hydrocephalus. A right frontal ventriculostomy was ...
Yilmaz Mustafa Deniz - - 2005
Congenital anomalies of the nose is comprised of a broad spectrum of different types of malformations ranging from a minor alar cleft to total agenesia. Reports about congenital septal defects are few in literature. In this manuscript, we report on a 19-year-old male patient with a congenital defect on the ...
Kajbafzadeh Abdolmohammad A Department of Pediatric Urology, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran. - - 2005
The aims of this review are one, to consider that congenital urethral anomalies are not a simple disease entity in all patients. This is accomplished by reviewing the evidence for presence of posterior urethral valve subtypes and comorbidity of various unexplained clinical conditions in some children leading to chronic renal ...
Babu R - - 2005
H-type tracheo-oesophageal fistula (H-TOF) and congenital oesophageal stenosis (COS) are both rare anomalies. Only six cases of H-TOF in association with COS have been described in the literature. Characteristically, diagnosis is delayed, often well beyond the neonatal period. We report a patient who was accurately diagnosed on day 12 of ...
Haargaard Birgitte - - 2004
OBJECTIVE: To study the distribution of congenital/infantile cataract in the entire population of Denmark according to etiological and clinical classifications. DESIGN: Population-based cohort study with retrospective chart review. PARTICIPANTS: All children (0 to 17 years old) who were born between 1959 and 2001 and registered with congenital/infantile cataract in Denmark ...
Zaal L H - - 2004
INTRODUCTION: Congenital naevi (CN) vary greatly in size, macroscopic appearance and histology. There is a practical need to subdivide CN according to size, since size differences have a direct bearing on cosmetic and resultant psychological problems, and on therapeutic options, and probably on the chance of malignant transformation. In this ...
Barnes Chris - - 2004
Severe congenital neutropenia (SCN) and Clostridium septicum myonecrosis is an uncommon and life-threatening association requiring urgent combined aggressive medical and surgical management. We report 2 cases of SCN (1 with known Kostmann's syndrome and 1 not known at presentation to have a congenital neutropenic disorder but subsequently received a diagnosis ...
Nicollas R - - 2005
OBJECTIVE: To report two cases of an undescribed association of first branchial cleft fistula and middle ear congenital cholesteatoma and to discuss management and embryological hypothesis. DESIGN: Retrospective study and review of the literature RESULTS: Both patients were young girls free of past medical or surgical history. Surgical removal of ...
Roh Jong-Lyel - - 2005
Hypoplasia of the epiglottis diagnosed at adulthood is extremely rare. Most patients with epiglottic hypoplasia have presented life-threatening symptoms of respiratory distress and severe aspiration in infancy or early childhood. This is a case of congenital epiglottic hypoplasia found in a 42-year-old man complaining of mild hoarseness and throat discomfort. ...
Katow Shigetaka - - 2004
Infection of rubella virus at the early stages of pregnancy in women who are not immune to rubella often induces congenital anomalies in infants, namely congenital rubella syndrome (CRS). This paper is the first comprehensive report of CRS cases in Japan, compiled from a questionnaire to major hospitals, reports to ...
Sarwar Zahir U - - 2004
Congenital ardrenocortical neoplasms are exceedingly rare. Our review of the medical literature revealed 23 reported cases of adrenocortical neoplasm including this one. Eighteen of these cases were adrenocortical carcinoma and four were grouped as adrenocortical tumor. We have not found any reported case with a histological diagnosis of a congenital ...
Koot Bart G P - - 2004
Congenital analbuminaemia was diagnosed in a small-for-gestational-age neonate presenting with placental and body oedema, an unusual presentation of this rare autosomal recessive disorder. A review of 39 reported cases in the literature shows that the clinical symptoms are always remarkably mild and that the diagnosis is rarely made in infancy. ...
Tonks A - - 2004
OBJECTIVES: To describe trends in incidence, associated anomalies, clinical outcomes and sensitivity of prenatal diagnosis for congenital malformations of the diaphragm in the West Midlands Region between 1995 and 2000. METHODS: Information was retrieved from a population-based register of major congenital malformations in a health region of England, the West ...
Malik A - - 2004
Congenital infiltrating lipomatosis is a rare clinicopathologic entity characterized by infiltrating lipomatous tumors which, although of benign nature, have a tendency to recur after surgery. This has a predilection for the extremities and the trunk and is seen as overgrowth of soft tissue and bone. It rarely affects the face ...
Setty S P - - 2004
A child with congenital esophageal stenosis (CES) demonstrates the need for accuracy in the diagnosis and management of this rare problem. Other etiologies of dysphagia must be looked into, but when the expected results are not realized CES should be considered. A range of diagnoses and diagnostic studies may help ...
Martins Wilson Denis - - 2004
A double lip is an anomaly that may be either congenital or acquired. It occurs most often in the upper lip, although both upper and lower lips are occasionally involved. Surgical intervention (simple excision) produces good functional and cosmetic results. In this report, we describe a case of congenital double ...
Tutarel Oktay - - 2004
BACKGROUND AND AIM OF THE STUDY: The quadricuspid aortic valve (QAV) is a rare congenital heart defect. All published cases of this rare malformation were reviewed. The study aim was to enlarge the evidence base for the condition, thus enabling conclusions to be drawn about its clinical course. METHODS: A ...
Eroglu Serpil Taymaz - - 2004
Cor triatriatum dexter is a very rare congenital abnormality in which the right atrium is divided into two chambers by a membrane. In this abnormality, there is a high incidence of associated congenital abnormalities, particularly of the right heart. In this case study, a 67-year-old man with Ebstein's anomaly, atrial ...
Mueller Darryl T - - 2004
Bilateral congenital cholesteatomas are rare entities. Nine cases have been previously described in the literature. Many different etiologies for the development of congenital cholesteatoma have been proposed. The case of a five-year-old boy with bilateral congenital cholesteatoma is discussed. A lesion of the left ear was apparent clinically. However, the ...
Dufke Andreas - - 2004
We report a boy with severe congenital myopathy, Möbius-Poland sequence, Robin sequence, and severe developmental delay. We consider this patient to have Carey-Fineman-Ziter syndrome. Since this is only the seventh case reported, this case helps to define further the consistent manifestations of this recognizable phenotype. Additionally our patient shows laryngostenosis, ...
Yilmaz Nurgül - - 2004
We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect. An inciting factor, acting during the second month of gestation, may affect the development of the eye, heart, ...
Kao Sheng-Chin - - 2004
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autonomic recessive disorder characterized by congenital analgesia, absence of sweating and mental retardation. Because of these abnormalities, the anesthetic managements in patients with CIPA deserve special attention. Here we report a 22-year-old man with CIPA receiving left above-knee amputation due ...
Ohye R G - - 2004
Technology for minimally invasive approaches to congenital heart disease is a rapidly evolving field. This case report reviews a novel approach to combining two of the newer technologies available to treat a pediatric patient with an atrial septal defect (ASD) and a vascular ring. This report is the first to ...
Arai Masayuki - - 2004
Neurocutaneous melanosis and Dandy-Walker malformation are both forms of rare congenital neurodysplasia. Interestingly, 8 to 10% of patients with neurocutaneous melanosis also harbor an associated Dandy-Walker malformation, indicating that these developmental abnormalities share a common origin. The authors describe a case of neurocutaneous melanosis associated with Dandy-Walker malformation and an ...
Anjaneyulu C - - 2004
Heterotopic neuroglial condition is a rare congenital anomaly in children. Most of the reported cases have been located in nose. To date, there was no recorded case of heterotopic neuroglial tissue in hard palate without any other congenital anomaly. The purpose of this report is to present a rare case ...
Kumar Vijayendra - - 2004
An unusual association of esophageal atresia (EA) and tracheoesophageal fistula (TEF) with left amastia and multiple congenital anomalies is presented because of its rarity and successful management. The other associated congenital anomalies included a high variety of anorectal malformation (high-ARM), hypospadias and absent left pectoral muscles with weak shoulder girdle. ...
Maniangatt S C - - 2004
INTRODUCTION: Congenital erythropoietic porphyria is one of the rare forms of an intriguing group of metabolic disorders known as porphyrias. Less than 200 cases have been reported in the literature. CLINICAL PRESENTATION: We report the case of a 27-year-old gentleman who had the clinical profile suggestive of porphyria, now presenting ...
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