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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, ...
Puvabanditsin Surasak - - 2003
This report describes a neonate with congenital partial absence of the pericardium associated with hypoplastic left heart syndrome. The patient presented with severe heart failure caused by a hypoplastic left ventricle. The infant died at 15 hours of age because of intractable congestive heart failure. Necropsy revealed, in addition to ...
Currarino Guido - - 2003
We report three infants with a poorly known form of congenital anterolateral angulation of the tibia with distinctive features seen on lateral roentgenograms. In these films the affected tibia appears to be divided into two segments, one proximal and the other distal, which taper as they approach each other at ...
Akcakus Mustafa - - 2003
Collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and sparse hair. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris ...
Wendelin Daniel S - - 2003
Hypertrichosis is hair growth that is abnormal for the age, sex, or race of an individual, or for a particular area of the body. Recognized forms of hypertrichosis are reviewed. Hirsutism, which is male-pattern hair growth in a female or child, is not included in this review. Hypertrichosis is categorized ...
Ortiz Vicente - - 2003
Congenital oesophageal stenosis is a very rare disease that commonly occurs in infancy with male predominance. This report describes a highly unusual case of congenital oesophageal stenosis extended throughout the length of the oesophagus, without webs or tracheobronchial remnants in the oesophageal wall, with normal oesophageal motility and normal endosonography ...
Sales de Gauzy Jérôme - - 2003
STUDY DESIGN: A case of congenital dislocated spine diagnosed by prenatal sonography is reported. OBJECTIVES: To report the first documented case of prenatal diagnosis, to point out the characteristic features of prenatal sonography of congenital dislocation of the spine, and to show the results of a careful management of birth ...
Kontos A P - - 2003
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease owing to the deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the porphyrin-haem synthetic pathway. Of the porphyrias, it is the most mutilating type, usually presenting early in life. To date, 12 documented cases of adult onset CEP ...
Kageshita Toshiro - - 2003
Spontaneous regression of a congenital melanocytic nevus is rare and has always been thought to be associated with a halo phenomenon, suggesting that an immunological mechanism is involved in the regression process. We describe herein 2 cases of complete congenital melanocytic nevus regression without the halo phenomenon in 2 Japanese ...
Gürtler Ricardo E - - 2003
Trypanosoma cruzi, the causative agent of Chagas disease, infects 10-18 million people and may be transmitted to the newborn. Using various data sources, we estimated that nearly 850 congenital cases occurred in Argentina in 1993, or 6.3 expected cases per each reported case in 1994 and in 1994-2001. The congenital ...
de Ziegler Dominique - - 2003
Sporadic cases of late follicular phase progesterone elevation have been described in ART cycles despite routine blockage of endogenous gonadotropins with GnRH agonists, the mechanism of which has been eluding our scrutiny. In this issue of JARG, Levran et al. report the first cases of adult-onset mild form of congenital ...
Sennaroglu Levent - - 2002
OBJECTIVE: The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. STUDY DESIGN: The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and ...
Yamamoto Tomoko - - 2002
Astrocytes in the cerebrum and medulla oblongata of cases of Fukuyama type congenital muscular dystrophy were examined by immunohistochemistry of oxidative modification products and free-radical scavenging enzymes because abnormal glia limitans formed by astrocytic end feet is considered to be involved in the genesis of brain lesions of Fukuywama type ...
Galois L - - 2002
Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metatarsal). The frequency of polydactyly varies widely among populations. It may be an isolated condition or part of a congenital syndrome. Polydactyly is generally classified into three major groups: medial ray ...
Inamura Takanori - - 2002
We report on a 9-month-old boy with congenital hydrocephalus involving cystic lesions in the bilateral cerebellopontine angle cisterns. Sequential CT cisternography demonstrated congenital obstruction of the fourth ventricular outlet and diverticular enlargement of the foramina of Luschka. The possibility of neuroendoscopic third ventriculostomy as a treatment for these pathologies is ...
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