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Gurusamy S - - 2009
Heterotopias are foci of grey matter in abnormal locations in the brain and are secondary to arrest of neuronal migration. Bilateral periventricular nodular heterotopias (BPVNH) are a rare form of heterotopic disorders. Many varieties of BPVNH with various associations have been reported in the literature, the commonest being the classical ...
Athappilly Geetha K - - 2009
PURPOSE: To report a case of congenital alacrima in a patient with Blepharophimosis Syndrome (BPES). METHODS: Case report of a 9-month-old female who presented with severe dry eyes. Further investigation revealed bilateral absence of lacrimal glands confirmed by CT. This unique case and its management are discussed. RESULTS: Conservative management ...
Yang Mao-Wei - - 2009
Absence of patella may be caused by congenital factors, trauma and surgical operations (patellectomy, etc). Complete absence of bilateral patellae is rare in clinical case. We report a case of posttraumatic bilateral patella excision. To the best of our knowledge, absence of bilateral patellae caused by self-mutilation has never been ...
Granato F - - 2009
Congenital lobar emphysema (CLE) is a rare congenital lung disease consisting in overinflation of a pulmonary lobe. Adult onset of CLE is therefore unusual, often presented with mild symptoms. The authors report a very uncommon case of congenital segmental emphysema diagnosed in a 21-year-old non-smoking man because of recurrent right ...
Wallace S - - 2009
During necropsy of a 6-year-old, male African Green monkey (Cercopithecus aethiops), multifocal pale, white to tan areas, 1-2 cm in diameter, were noted in the right lateral lobe, medial lobe, and capsular surface of the liver. Light microscopic examination of the liver revealed numerous spindle cells dispersed within interconnecting, broad ...
Dijkman Koen P - - 2009
Tracheal agenesis is a rare congenital condition. It usually presents as an unexpected emergency during resuscitation of a newborn in the delivery room. The condition is almost always fatal in the resuscitation phase, but also when the neonate survives the long term prognosis remains poor. We present a case of ...
Antón-Pacheco Juan L - - 2009
Laryngeal web is a rare malformation caused by an anomalous embryologic development of the primitive larynx. Most of the reported cases are of the glottic type; the subglottic web is extremely rare. Laryngotracheobronchoscopy plays an essential role in the diagnostic workup of this lesion, and endolaryngeal resection is the preferred ...
Jang Chul Ho - - 2009
The classic presentation of congenital cholesteatoma is a pearl behind the anterior-superior quadrant of an intact tympanic membrane. Idiopathic hemotympanum is characterized by a dark blue eardrum, the most prominent feature of which is the presence of cholesterol granulomas. Blue eardrum is associated with eustachian tube dysfunction. Despite the well-established ...
Shah Rahul K - - 2009
The authors report a case of asymmetric development of the mastoid antrum in a neonate. The lack of mastoid development most likely represents a congenital maldevelopment. Agenesis of the mastoid antrum has surgical implications, as failure to recognize its absence can result in disorientation during surgery, with potential to injure ...
Sun Z-Y - - 2009
Supernumerary nostril is one of the rarest congenital nasal deformities, and only a limited number of articles have been published so far on this topic. We present a typical case of a supernumerary nostril located above the left nostril in a male infant. We describe the appearance, physical examination, surgical ...
Fiaschetti Valeria - - 2009
Gallbladder agenesis (GA) is a rare congenital anomaly of the biliary system often associated with other congenital abnormalities. Patients become symptomatic in 23% of cases. GA is often misinterpreted as other diseases, therefore, leading to unnecessary surgery. We report a case of congenital GA associated to cystic duct absence and ...
Psathakis Kostas - - 2009
We report a benign condition of transient lung herniation through a congenital structural defect of the thoracic cage, in a young, otherwise healthy, asymptomatic individual. A brief review of the existing literature on this rare entity is also presented.
Bosanquet David - - 2009
Congenital Epulis, also known as Neumann's tumour, is a rare congenital growth affecting the gingival mucosa of neonates. It is benign condition, seen more frequently in females, with multiple Epuli occurring in only 10% of cases. The cause and origin of Congenital Epulis remains unclear. In this article we present ...
Yasawy Mohamed I - - 2009
This report concerns two brothers aged 10 and 18 years with long-standing dysphagia that started at age three and six years respectively. They had been diagnosed as achalasia and treated accordingly. The appearance of additional symptoms and clinical signs required further investigations including abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, ...
Bowers Brian B Department of Medicine, Division of Rheumatology, Stony Brook University Medical Center, T16-040 Health Science Center, Stony Brook, N.Y. 11794. Email: - - 2009
Wegener's granulomatosis is a granulomatous necrotizing vasculitis characterized by its predilection to affect the upper and lower respiratory tracts and kidneys. Ocular manifestations such as keratitis, conjunctivitis, scleritis, episcleritis, nasolacrimal duct obstruction, uveitis, retroorbital pseudotumor with proptosis retinal vessel occlusion, and optic neuritis have all been described. We present a ...
Küpers A Marlijn - - 2009
This article describes five cases of congenital epulis, a rare and benign swelling in the mouth of a newborn, which is not widely known. We present five cases: four cases presented as single pedunculated nodules of the gingiva and in one case two nodules were present. Of all, 50% were ...
Nicolay N - - 2008
In France, the resurgence of syphilis infection since the beginning of the 2000s, with cases reported among women of reproductive age is a reason for concern considering the possible occurrence of congenital syphilis (CS). Using the French national private and public hospital database, we investigated the number of children with ...
Thiel David D - - 2008
Congenital ureteral strictures most commonly occur at the proximal and distal segments of the ureter. Congenital midureteral stricture is a rare entity that is usually detected by prenatal ultrasonography and repaired in infants. We present the case and video of a congenital midureteral stricture in a 20-year-old woman who presented ...
Ekanem Theresa B - - 2008
A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980-2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth defects and provide reference ...
Adeniyi T O - - 2008
Congenital diaphragmatic hernias occur through embryologic defects in the diaphragm. We present 2 cases of congenital diaphragmatic hernia, the first case was a late presentation in an 11 month old child, and the second case was an early typical presentation in a day old child, both diagnoses were made on ...
da Silva Freitas Renato - - 2010
Absence of half-nose is an extremely rare congenital malformation, which has a devastating impact on the patient and the family. A review of indexed English-language literature found 91 cases of half-nose, including 50 patients with proboscis lateralis. Pathogenesis is not clear, and the reported cases have sporadically occurred. Many aspects ...
Modi Kalgi - - 2009
Cor triatriatum dexter is a rare congenital abnormality in which the right atrium is divided into two chambers by a membrane. A rare variant of cor triatriatum dexter where the membrane is attached to the left of the superior vena cava at one end and to the right of inferior ...
Khan N U - - 2008
Congenital cystic adenomatoid malformation (CCAM) is a rare developmental, non-hereditary, hamartomatous abnormality of the lung with adenomatoid proliferation of cysts resembling bronchioles. It is usually unilateral with involvement of a single lobe. We report an unusual case of a 33-year-old man who presented with this disease with the involvement of ...
Isawumi Michaeline A - - 2008
The authors report a case of congenital bilateral eversion of the eyelids with secondary conjunctival prolapse in a 4-hour-old neonate. Conservative treatment with hypertonic normal saline, lubricants, antibiotics, and padding was instituted. No surgery was performed. Complete eye opening was achieved by the 10th day after birth. Medical management is ...
Shera A H - - 2008
Congenital webs are extremely rare anomalies of the extrahepatic ductal system. As the vast majority of such cases are asymptomatic, detection is usually incidental during surgery for some other cause. In a young boy presenting with features of cholangitis, a congenital common bile duct web was discovered on T-tube cholangiogram. ...
Yiltok S J - - 2008
BACKGROUND: Congenital amputation of the limbs is not uncommon. However, it is very rare when this involves both the upper and lower limbs. METHOD: This is a case report of a child who presented with congenital amputation involving both the upper and lower limbs. RESULTS: The patient was a 10-day-old ...
Kumar Basant - - 2008
Cantrell's pentalogy with ectopia cordis is an extremely rare and lethal congenital anomaly, with a reported incidence of 1:100,000 births in developed countries. We report a neonate who presented with ectopia cordis along with cleft lower sternum, upper abdominal wall defect, ectopic umbilicus, diaphragmatic defect, and interventricular septal defect. The ...
Goyal Abhishek - - 2008
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.
Kwan Kenny - - 2009
Arthrogryposis is a non-progressive disorder with congenitally soft tissue contractures affecting two or more joints. It can be sporadic, or inherited in an autosomal dominant or recessive fashion. Typically, in the upper limb, the shoulder is in adduction and internal rotation, the elbow is in extension with a lack of ...
Patrianakos Alexandros P - - 2008
Noncompaction myocardium of the left ventricle (LV) is a genetically heterogeneous congenital cardiomyopathy, that has only been described during the last two decades. Echocardiography plays a pivotal role as a first line diagnostic tool of this rare abnormality. The present case describes the imaging of the noncompacted myocardium using varying ...
Spinelli Claudio - - 2008
Congenital diaphragmatic hernia (CDH) presents a wide spectrum of anatomical variants and clinical pictures depending on the topography and dimensions of the diaphragmatic defect and on the patient age. Most CDH cases acutely present with tachypnea, cyanosis, and respiratory failure within the first minutes to hours of life. Despite significant ...
Jang Chul Ho - - 2008
We report here on a case of congenital cholesteatoma that extended into the internal auditory meatus and cochlea. A 17-year-old boy underwent surgery for a very large cholesteatoma, which was discovered behind an intact tympanic membrane. Pure tone audiometry revealed an unresponsive ear. High resolution temporal bone computed tomography showed ...
Kannan Lakshminarayanan - - 2008
BACKGROUND: In utero exposure to carbimazole for maternal hyperthyroidism has been reported to cause choanal atresia. There are case reports of patent vitello-intestinal duct and Meckel's diverticulum in similar association. CASE: We report another such instance of an infant who was exposed to carbimazole in utero, presenting with bilateral choanal ...
Vera Jesus A - - 2008
Combined atrial septal defect and pulmonic stenosis, while a common occurrence in children, is relatively uncommon in adults. There is no widely accepted order in which the defects should be corrected. We report a case that highlights the hemodynamics and the technical dilemma of deciding which lesion to correct first.
Kumar Basant - - 2008
Oroparyngeal tumors in neonates protruding from the mouth are extremely rare. They have the potential to cause respiratory distress, or even death of the child during the perinatal period owing to airway obstruction and may need a multidisciplinary team approach at the time of birth. Congenital epulis and epignathus are ...
Datta K - - 2008
Fibular Hemimelia is a rare congenital disorder of deficiency to complete absence of fibula. It has been associated with post axial skeletal anomalies like shortening of femur, absence of lateral rays of foot and syndactyle, polydactyle etc. We report this case because of associated amniotic constriction bands over both the ...
Mabongo M - - 2008
Congenital epulis (CE) is an uncommon granular cell lesion of unknown pathogenesis and uncertain histogenesis that presents at birth. It is a benign hamartoma that may interfere with feeding and respiration. The treatment of CE is by simple excision. In the 136 years since CE was first described, more than ...
Di Costanzo Alfonso - - 2009
The congenital form of myotonic dystrophy type 1 (CDM1) has an almost exclusively maternal transmission and is characterized by mental retardation and by moderate/severe ventriculomegaly and white matter hyperintensities on brain magnetic resonance imaging (MRI). We report a 20-year-old case of CDM1 with paternal inheritance showing mental retardation and normal ...
Schreml S - - 2008
Neurocutaneous melanosis (NCM) is a rare congenital noninheritable phacomatosis characterized by large and/or numerous cutaneous congenital melanocytic naevi (CMN) in combination with melanocytic leptomeningeal tumours. Dandy-Walker malformation (DWM) consists of a cystic dilatation of the fourth ventricle communicating with the posterior fossa, and a high insertion of the tentorium and ...
da Gama Malch?r Marco - - 2008
A rare case of a 28-year-old Asiatic male with the isolated absence of a posterior cruciate ligament is reported. Clinical features, diagnostic steps, therapeutic strategies and follow-up are described. A review of the literature is also presented.
García de Guilarte Ruben Fernández - - 2009
A case of successful reduction glossectomy for idiopathic macroglossia is presented. Macroglossia varies in its degree of severity. With pronounced macroglossia, respiratory and feeding difficulties may ensue. Persistent macroglossia leads to speech problems and anterior open bite. The cause of macroglossia must be clearly defined, and true macroglossia separated from ...
Anwar Ashraf M - - 2008
Double orifice mitral valve (DOMV) is a rare congenital malformation described as division of mitral orifice into two anatomically distinct orifices separated by an accessory bridge of fibrous tissue. In 85% of cases, both orifices are unequal in size. It is usually associated with other congenital defects such as atrioventricular ...
Mateo Isidro - - 2008
A foetal cat exhibiting multiple congenital malformations and meeting the criteria for being considered as a case of true schistosoma reflexum (SR) is described. SR in animals is briefly compared with relatively similar malformation entities in humans. Murine gene mutations producing severe ventral body wall defects associated with anomalies of ...
Carr Michael - - 2008
Congenital aneurysms of the muscular interventricular septum are rare. We report the diagnosis of such an aneurysm by fetal echocardiography at 19 weeks' gestation and the subsequent follow-up through early neonatal life, with the ultimate progression to a dilated cardiomyopathy requiring cardiac transplantation. This case highlights the early diagnosis of ...
Sankilampi Ulla - - 2008
Congenital Langerhans cell histiocytosis (LCH) is a rare condition with great diversity. A case of congenital skin-only LCH presenting as a "blueberry muffin baby" with a spontaneous regression by the age of 8 months is reported here. New insights into clinical manifestations and prognosis, which is not uniformly positive, are ...
Al-Ammar Ahmed Y - - 2008
OBJECTIVE: To assess the role of the use of nasal stent (NS) on the outcome of choanal atresia (CA) surgeries, as well as the effect on the age at the time of surgery. METHODS: The study involved a retrospective review of the files of the case with the diagnosis of ...
Gonçalves Carrasquinho S - - 2008
PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, ...
Smets Koenraad - - 2008
X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment ...
Heyer Geoffrey L - - 2008
BACKGROUND AND PURPOSE: PHACES syndrome is a neurocutaneous disorder of unknown etiology. We studied the spectrum of associated congenital and progressive cerebral vascular anomalies. METHODS: The medical records of 7 patients with PHACES syndrome were reviewed and combined with an additional 108 PHACES cases identified from the literature. We reviewed ...
Kumar Basant
Cantrell&#x2032;s pentalogy with ectopia cordis is an extremely rare and lethal congenital anomaly, with a reported incidence of 1:100000 births in developed countries. We report a neonate who presented with ectopia cordis along with cleft lower sternum, upper abdominal wall defect, ectopic umbilicus, diaphragmatic defect, and interventricular septal defect. The ...
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