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Results 451 - 500 of 949
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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 ...
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 ...
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.
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
Scheid Sara C - - 2002
Tracheal cartilaginous sleeve (TCS) is a congenital malformation characterized by fusion of the tracheal arches that may be isolated to a few tracheal arches, include the entire trachea, or extend beyond the carina into the bronchi. TCS has been reported only in children with craniosynostosis. Seven cases of TCS and ...
Siou G S - - 2002
Laryngomalacia is the most common paediatric airway problem presenting as stridor in the neonate. This congenital anomaly is thought to be caused by inward inspiratory collapse of the supraglottic larynx due to a prolapsed, tall and tubular epiglottis with flaccid aryepiglottic folds. The natural history of this condition usually results ...
Imai Yukihiro - - 2002
CONTEXT: Congenital cystic adenomatoid malformation, intralobar sequestration, extralobar sequestration, bronchopulmonary foregut malformation, bronchial atresia, and lobar emphysema generally are treated as separate entities, but there are commonalities among them. OBJECTIVE: To clarify the identity of congenital cystic adenomatoid malformation in relation to other cystic diseases. DESIGN: We studied 10 consecutive ...
Stewart Caroline - - 2002
The Microgastria-limb reduction anomaly is a rare disorder of unknown aetiology in which microgastria is associated with limb defects, along with splenic and other variable congenital abnormalities. In 15 previously reported cases, none have had the most extreme form of amelia. We report the clinical progress of a 3-year-old girl ...
Orogade A A - - 2002
Congenital icthyosis is a rare group of disorders of keratinisation. A case of this condition is reported in order to highlight the clinical features and essential components of management: resuscitation, skincare, nutrition and counselling. This case is reported in order to appraise clinicians of its presence because there was delay ...
Richardson Stephen K - - 2002
Congenital and infantile types of melanoma are uncommon conditions for which there are limited epidemiologic data. The number of reported cases is small with several ascribed etiologies. We review the literature and report the first documented case, to our knowledge, of pigment-synthesizing melanoma in an infant. Reported cases of congenital ...
Shin J H - - 2002
The authors report the case of a 21-year-old woman with a giant congenital nevocytic nevus (GCNN) who developed vitiligo at the age of 16 years on skin areas remote from the GCNN. This is the first reported case of GCNN developing neurotization combined with vitiliginous changes within the GCNN lesion. ...
Davis C - - 2002
Fryns syndrome is a rare autosomal recessive disorder of multiple congenital abnormalities. Major diagnostic criteria include congenital diaphragmatic hernia, distal limb and nail hypoplasia and abnormal facies. More than 70 cases have been reported since the first report in 1979, 86% of which have been associated with an early lethal ...
Gardikis S - - 2002
In the literature there are only three reported cases of spontaneous pneumothorax resulting from congenital cystic adenomatoid malformation in children under 1 year and for whom any resuscitative efforts were made. We present here a fourth case of a pre-term baby girl who was in perfect health, until she suffered ...
Jain Sanjay - - 2002
The authors showed the data of congenital amputation in 36 cases among the physically handicapped individuals (who attended a district level hospital for the purpose of obtaining a handicap certificate) during the period from 1 January 1999 to 31 December 2000. Out of 3550 individuals, we found 612 with congenital ...
Roberts P A - - 2002
Congenital lobar emphysema (CLE) is an uncommon cause of progressive respiratory distress that typically presents in the first few days of life. There has been a previous report of CLE in a mother and daughter. The authors describe 2 cases involving the right upper and middle lobes in a father ...
Potsic William P - - 2002
OBJECTIVE: We report our experience with congenital cholesteatoma over a span of 20 years with an emphasis on presenting characteristics and predictors of outcome. METHODS: We conducted a retrospective review from 1981 through 2000. RESULTS: One hundred seventy-two congenital cases were identified in 167 patients. Five patients had bilateral disease. ...
Rodriguez Heron E - - 2002
We report the case of a patient with congenital absence of the external carotid artery in whom we performed a carotid endarterectomy. The radiographic features and operative findings are presented. Four similar cases previously reported in the literature are reviewed. A comment on the pathophysiology of atherosclerosis at the carotid ...
Karthikeyan Gengaimuthu - - 2002
Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is ...
Calif Edward - - 2002
The delta phalanx is a rare congenital skeletal anomaly. An abnormal C-shaped epiphysis is usually responsible for a progressive angular digital deformity observed either in hands or feet. Solitary delta phalanges are usually described. We report a case of bilateral congenital hand malformations featuring a triplet of delta phalanges affecting ...
Billet J P H G - - 2002
Congenital lobar emphysema was found in a three-month-old male springer spaniel. Clinical signs included coughing, progressive dyspnoea and abnormal lung auscultation. Radiographic examination revealed overinflation and hyperlucency of the right middle lung lobe. Following lung lobectomy, clinical signs resolved and the animal had normal exercise tolerance. Previous case reports are ...
McNeil Stephen M - - 2002
There have been few reports of congenital inflammatory myopathy in the literature, and most of these have been associated with congenital muscular dystrophy. We review the literature and present a case with electromyographic and muscle biopsy evidence of congenital inflammatory myopathy with onset in the perinatal period and no evidence ...
Nischal K K - - 2002
To investigate the correlation between clinical, high frequency ultrasound biomicroscopy (UBM) and, where possible, histological findings in cases of congenital corneal opacification presenting to the departments of ophthalmology, Great Ormond Street Hospital for Children, London, and the Hospital for Sick Children, Toronto, Canada. 22 eyes of 13 children (age range ...
Itin Peter H - - 2002
We report a 6-year-old boy who developed depigmentation within a congenital melanocytic nevus at the age of 3 years. During the following months a halo phenomenon and vitiligo-like lesions distant from the nevus appeared. A thorough search for malignant melanoma was negative. A second patient, a 45-year-old woman, had a ...
Geerinckx I - - 2001
Uterine arteriovenous malformations are rare lesions with a considerable risk potential. Clinical presentation varies from no signs over various degrees of menorrhagia to massive life threatening vaginal bleeding. This is the first report of congenital uterine arteriovenous malformations in two patients with primary infertility. In one case, the uterine lesions ...
Dalsgaard S - - 2001
We present the case of a 10-year-old boy, Sam, with congenital deafness and Gilles de la Tourette Syndrome (GTS). GTS is characterised by multiple motor tics and one or more vocal tics that wax and wane. Due to his deafness Sam never developed vocal language but instead used sign language ...
Lloyd W C WC - - 2001
Medulloepithelioma is a rare congenital intraocular neoplasm. The authors describe a case involving a 6-year-old girl who presented with leukocoria and an inflamed red eye. The important clinical and histopathologic features of this condition are reviewed in correlation with echographic findings.
Mesiwala A H - - 2001
The authors present the first known reported case of hemifacial microsomia associated with a Chiari I malformation and syrinx. A 14-year-old girl presented with progressive torticollis of 3 years' duration and headaches exacerbated by exercise. Computerized tomography scanning and magnetic resonance imaging revealed extensive craniofacial and vertebral abnormalities, including aplasia ...
Morgan K W - - 2001
BACKGROUND: Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare condition which may present at birth or during the neonatal period. It is usually characterized by the eruption of multiple, disseminated, red-brown papules and nodules which may increase in size and number during the first few weeks of life. Systemic ...
Edmonds D K - - 2001
The past year has brought a number of interesting developments in the world of paediatric and adolescent gynaecology. These primarily relate to the genetics of the biology of sexual differentiation, which is now beginning to gain considerable understanding. A number of case reports and surgical procedures have also been described, ...
Saigusa K - - 2001
In a forensic autopsy, hypoplasia of the left lobe (lateral segment) of the liver was found. Although the cause was unknown, the morphologic anomaly observed in this case was regarded as congenital because there was no history of surgery. Moreover, the main vessels of the left lobe were present despite ...
Kacker A - - 2001
We present a congenital cystadenoma of the tongue in a neonate, which presented at birth. Cystadenomas are uncommon tumors that form from salivary gland duct tissue and are more commonly seen in adults. This is the youngest case to be reported in the English literature. A review of literature with ...
Orhan M - - 2001
PURPOSE: To compare conventional and endoscopic probing for congenital nasolacrimal duct obstruction in infants. METHODS: Conventional probing was performed in 22 eyes of 18 patients, age range 7-14 months (mean 11.4 months). Probing was done with intranasal endoscopic visualization in 18 eyes of 14 patients, age range 7-13 months (mean ...
Ben-Amitai D - - 2001
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon sporadic congenital vascular anomaly. Of the 111 patients with CMTC examined in our clinic during the past 25 years, 4 were found to have hypospadias. All cases were sporadic. Although CMTC has been associated with various abnormalities, to our knowledge there are ...
Kiliç N - - 2001
The oromandibular limb hypogenesis syndromes (OLHS), which are congenital malformations involving the tongue, mandible, and the limbs are extremely rare with a few sporadic cases reported in the literature. In this report, the authors report a case of OLHS with gastroschisis, that has not been described previously according to the ...
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