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Results 401 - 450 of 943
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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 ...
Patankar J Z - - 2004
Congenital anorectal malformations are relatively common, and associated genitourinary malformations have been reported in up to 40% of patients. Uterovaginal malformations are also not rare in children. They are known to occur with increased frequency in children with anorectal malformations, but the diagnosis may still be difficult. We report herein ...
Kang In Suk - - 2004
Giant Meckel's diverticulum is a very rare lesion and its association with a congenital diaphragmatic hernia has not been reported previously. We report a case of newborn with a giant Meckel's diverticulum and congenital diaphragmatic hernia. A large round atypical air-filled bowel segment was found by chest radiography preoperatively, and ...
Pecache N - - 2004
Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6-8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to ...
Hynes P J - - 2004
The embryological development of the male urinary system remains a subject of much controversy. As a result the pathogenesis of congenital anomalies such as hypospadias and epispadias, which are presented to the reconstructive surgeon remains poorly understood. A review of the literature identifies its three principal developmental stages: (1) division ...
Jagia Rachna - - 2004
Nevus depigmentosus (ND) is classically defined as a congenital nonprogressive hypopigmented macule, stable in size and distribution. There have been many reports of colocalization of ND and lentigines. We describe development of multiple lentigines over ND in a 9-year-old girl along with hypoplasia of the underlying breast. The case is ...
Gorincour G - - 2003
Congenital genu recurvatum (CGR) is an extremely rare condition observed at birth. It is associated with, among other malformations, genetic entities such as the Larsen syndrome. When CGR is isolated, orthopedic treatment will usually lead to a good functional prognosis. We report the first case of isolated CGR diagnosed prenatally ...
Arslanian Anna - - 2003
Extralobar sequestration is a congenital acquired disease more frequently observed after birth or during infancy. In half of the cases, it is associated with another malformation. In the following case we report the observation of a 24-year-old female with right extralobar sequestration associated with a diaphragmatic hernia and containing gastric ...
Nayci Ali - - 2003
We report the case of a newborn, who developed intestinal obstruction soon after birth. Exploratory laparotomy revealed a congenital vascular band anomaly extending from the antimesenteric border of the terminal ileum to the gallbladder in association with ileal atresia. Surgical intervention was performed for correction of the disorder. A review ...
Hong Ki Hwan - - 2003
Hypoplasia or absence of the epiglottis in an adult is a rarely reported congenital anomaly that usually occurs in association with congenital anomalies of other organ systems. Most epiglottic anomalies usually present in infancy and early childhood with respiratory and feeding problems and the affected individual dies shortly after birth ...
Scassellati-Sforzolini G - - 2003
PURPOSE: To describe a case of congenital unilateral giant coloboma and its successful surgical repair with 33 years of follow-up. CASE REPORT: A 6-year-old boy presented with a congenital unilateral giant coloboma of the right upper eyelid associated with madarosis of the eyebrows, microphthalmos, dystopia of the hair, and coloboma ...
Danarti Retno - - 2003
Large congenital melanocytic nevi have so far always been considered to occur sporadically, and until now little has been written about a possible role of heredity as a cause of this disorder. We reviewed familial cases of large congenital melanocytic nevi as reported in the literature and found 14 case ...
Oguz Halit - - 2003
PURPOSE: To report the association of congenital nasolacrimal duct occlusion and clinical anophthalmos in an eight-year-old girl. METHODS: A case report. The patient suffered from epiphora and clinical anophthalmos on the right side since birth. This paper presents the clinical presentation, workup, and surgical approach of the case. RESULTS: The ...
Covington Cassondra - - 2003
Individuals with hydranencephaly, a congenital deformity resulting in a virtual absence of cerebral hemispheres, generally do not survive past infancy. Two published cases report survival past the age of 10. We report the oldest known survivor at 20 years, 6 months and compare the behavioral and anatomical characteristics of these ...
Murray Conor P - - 2003
BACKGROUND: A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. OBJECTIVE: To describe ...
Banerjee Antima - - 2003
Sirenomelia is a rare congenital anomaly with incidence of 1.5-4.2 per 100,000 births. Vascular steal phenomenon, posterior axial mesodermal defect or teratogenic defects have been implied in its pathogenesis. The authors present two cases with associated upper limb involvement and vertebral defects and complete absence of one lower limb bones ...
Barreiro Andrés - - 2003
In this case report, we describe a tawny owl chick (Strix aluco) coming from a Wild Fauna Recovery Center with multiple congenital malformations in the limbs. The animal was unable to fly and showed marked malnutrition and poor general appearance. Physical, radiologic, and anatomic examinations showed osseous malformations including dislocation ...
Messina Mario - - 2003
Since 1988, when Rogers first described a boy with anophthalmia associated with esophageal atresia, eight similar cases have been reported. These patients lend support to the hypothesis that this association of congenital anomalies constitutes a discrete entity, although the etiology is still unknown. We report a patient with this combination ...
Kanno Ryuzo - - 2003
In patients with afibrinogenemia who require operation, prophylaxis against bleeding is important. We report the case of a 14-year-old boy with Marfan syndrome and congenital afibrinogenemia in whom hemopneumothorax developed. Video-assisted thoracoscopic surgery was performed successfully under intravenous administration of fibrinogen and with careful monitoring of plasma fibrinogen level.
Pohl A - - 2003
A rare case of congenital atresia of the portal vein and ductus venosus, extrahepatic portocaval shunt, benign neonatal hemangiomatosis, congenital adrenal hyperplasia, and an atrial septal defect is reported. Twenty-two cases of congenital extrahepatic end-to-side shunts have been described before. Although additional anomalies are common in this type of shunt, ...
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