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Results 201 - 250 of 930
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Annam Vamseedhar - - 2010
Congenital cystic adenomatoid malformation (CCAM) of the lung, Stocker's type III is a rare anomaly characterized by replacement of normal pulmonary tissue with cysts of variable size and distribution. We report here a 16-week stillborn fetus with Stocker's type III bilateral CCAM involving the entire lungs. The additional associated malformations ...
Shah Shreya - - 2010
An 8-year-old girl presented with complaints of bilateral epiphora since birth. The patient had congenital punctal and canalicular atresia combined with congenital fistula. She was treated successfully with surgery. A review of the literature indicated very few reports of surgical treatment of such cases.
Kamal Dounia - - 2010
Three new cases of hemifacial hypertrophy caused by congenital infiltrating lipomatosis of the face are reported. The literature on infiltrating lipomatosis of the face is reviewed with an emphasis on accompanying anomalies and treatment strategies. In this study, the clinical features, radiographic findings, histopathology, and postoperative results were analyzed in ...
Naikmasur Venkatesh G - - 2010
Abstract Congenital bony fusion of the maxilla and mandible, especially as an isolated occurrence, is a very rare condition. The very few cases reported in the literature are mostly inadequate in description and confusing in nomenclature. An isolated case of syngnathia in a 60-year-old female patient with unilateral bony fusion ...
Zhang Yue-Li - - 2010
Congenital diverticulum and aneurysm are rare cardiac abnormalities. Given their very low incidence especially in adult patients and the few cases reported, the diagnosis might be ignored when the cardiac malformation is seen for the first time. This article presents two adult cases of congenital diverticulum and aneurysm, which were ...
Repetto Paolo - - 2010
Polyorchidism is a rare congenital anomaly. A review of literature has yielded about 100 cases. We describe a rarer case of polyorchidism consisting of 3 testes on left hemiscrotum and one normal testis in right hemiscrotum. Diagnosis and management are discussed.
Chien Jen-Chung - - 2010
Giant congenital melanocytic nevi are rare, with an estimated incidence of approximately 1 in 20,000 live births. They increase the lifetime risk for malignant melanoma and neurological deficits, including leptomeningeal melanocytosis and epilepsy. Recently, we encountered two patients in whom giant congenital melanocytic nevi were noted at birth. Case 1 ...
Madadi F - - 2010
Congenital knee ankylosis is a rare condition which might be accompanied with other abnormalities or not. To our knowledge, there is no report on true bony ankylosis of the knee. The only ones in the literature include fibrous knee ankylosis. Thus this seems to be the first presentation of true ...
Sasi Walid - - 2010
Cystic lymphangioma is a rare congenital lymphatic malformation. We report a case of a 37-year-old female with recurrent cystic lymphangioma of the breast which has progressively developed during pregnancy and breast feeding.
Tempe Deepak K - - 2010
Congenital lobar emphysema is a rare entity presenting in the first month of life. It appears with varying degrees of respiratory distress, clinical and radiological evidence of over-aeration of the upper and middle lobes, mediastinal shift and hypoxia. Its early recognition and surgical intervention can be life-saving. Even today, despite ...
Harvey H B - - 2010
Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ...
Promsonthi Patama - - 2010
Megalourethra is a rare congenital anomaly characterized by dilatation of the penile urethra which causes functional obstruction of the lower urinary system. We present a case of congenital megalourethra diagnosed prenatally. Transabdominal sonography revealed a male fetus with bilateral hydroureter, hydronephrosis, dilated bladder and normal amniotic fluid. The fetal penis ...
Lewis Andrea F - - 2010
We present the case of a patient with Charcot-Marie-Tooth disease (CMT) type 1 with congenital bilateral vocal fold paralysis in order to emphasize the treatment options and long-term outcome. The case is reviewed with regard to presentation, differential diagnosis, and treatment. We also reviewed the literature to determine the frequency ...
Alberola Fernando Toledo - - 2010
Tufted angiomas (TA) are rare benign vascular tumors of unknown pathogenesis. Most appear during childhood; approximately 25 percent are congenital and 50 percent appear in the first year of life. According to the literature, TA that are present at birth or in the first year of life have a greater ...
Ozturk Hulya - - 2010
Imperforate hymen is a rare congenital malformation to present with symptoms in the neonatal period. We present a case of a 5-day-old neonate with a marked interlabial swelling causing urinary retention. Imaging revealed hydrometrocolpos, hydrosalpinx, and bilateral hydronephrosis. Additionally, our patient had polydactyly of both feet and hands, and laryngocele ...
Hidaka H - - 2010
OBJECTIVES: We report an extremely rare case of congenital cholesteatoma of the mastoid region, presenting as acute mastoiditis. We also review the 16 previously reported cases of congenital cholesteatoma of the mastoid region. CASE REPORT: A 65-year-old man presented with left-sided, post-auricular swelling and pain. Acute mastoiditis was diagnosed, with ...
Shivathirthan Nairuthya - - 2009
We report a case of eosinophilic enteritis involving the proximal small bowel, a relatively rare entity, presenting unusually as enteroliths in a 68-year-old man with complaints of anemia, malena and abdominal pain. The disease if diagnosed in the initial stages responds well to medical treatment but if associated with complications ...
Stephens Daniel - - 2009
Herein is reported case of an otherwise healthy full-term infant girl who presented with numerous spontaneous intestinal perforations with congenital absence of intestinal muscularis mucosae and muscularis propria. Few other cases are reported in the English literature with varying presentations. We review those cases, theories of pathogenesis, embryology, and possible ...
Moftakhar Parham - - 2009
Vein of Galen malformations are rare congenital intracranial vascular malformations. Based on reports in the literature, spontaneous thrombosis or regression of these lesions is rare. Patients have variable outcomes from an asymptomatic course to death. The reasons behind spontaneous thrombosis are not entirely understood. Here the authors present a case ...
Gupta Vivek - - 2009
Congenital intrahepatic portosystemic venous shunt (IHPSVS) is rare vascular anomaly. We present one case of a 14-month male child who presented with global developmental delay. Child had high ammonia levels with low glutamine and high bile salts on the previous investigations and had history of neonatal seizures since day 13 ...
Sekaran Prabhu - - 2009
We present a case where a baby girl was born with failure of fusion of the perineal raphe. To our knowledge, there has been limited reports of this form of congenital abnormality in the literature and is referred to as "perineal groove." The incidence of perineal groove is unclear but ...
Yusuf Lukman - - 2009
We are reporting a rare case on a fourteen years old girl who presented with a vague abdominopelvic pain and frequent complaints of urinary symptom of hesitancy since her early childhood. The bilateral loss of the inferior pubic rami is a very rare clinical and congenital abnormality as evidenced by ...
Van Dorp Dennis R - - 2010
Congenital abdominal wall defects are common anomalies which include gastroschisis, omphalocele and umbilical cord hernia. Recent reports indicate that gastroschisis is increasing in prevalence, whereas omphalocele has remained steady, suggesting that environmental factors may play a part in their pathogenesis. The aim of this study is to review animal teratogen ...
van Houten Annemarie H - - 2010
Malignant transformation of giant congenital nevi (GCN) is very rare, but may already occur in childhood. Benign proliferative nodules in GCN may clinically and histologically mimic a malignant melanoma. We report a newborn infant with large proliferative nodules and multiple satellite nevi in a GCN of the bathing suit type. ...
DaCosta V - - 2009
We present a case of a patient with Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis. This group of congenital malformations is often asymptomatic until puberty, when it presents as cyclic dysmenorrhoea, leucorrhoea or a pelvic mass. Magnetic resonance imaging is becoming the preferred modality for delineation of uterine ...
Bekiesinska-Figatowska M - - 2009
Ewing's sarcoma accounts for approximately 30% of primary malignant bone tumors, mainly in children and young adults. At the time of diagnosis many patients already have metastatic spread of the disease, most often to the lungs and skeletal system. Intracerebral metastases are rare - the reported incidence is up to ...
Chan Gilbert - - 2009
STUDY DESIGN: Review. OBJECTIVE: To review and outline the preoperative evaluation and approach in assessing children with congenital vertebral malformation. SUMMARY OF BACKGROUND DATA: Congenital vertebral malformations encompass a broad spectrum of conditions. A high association of renal, cardiac, and intraspinal anomalies with congenital vertebral malformation has been well documented ...
Marks David S - - 2009
STUDY DESIGN: Review article. OBJECTIVE: To discuss natural history of congenital scoliosis and kyphosis. SUMMARY OF BACKGROUND DATA: Review of previously published literature on natural history of congenital spine deformities. METHODS: Medline and google search for congenital scoliosis, kyphosis, and kyphoscoliosis, congenital spine anomalies, deformities, and pathologies, and congenital vertebral ...
Grisaru-Granovsky S - - 2009
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare but clinically and scientifically challenging condition. The introduction of ultrasound has enabled early prenatal detection and consequently, hope of early therapeutic intervention. AIM: We undertook the task to review the recent developments in understanding the pathology of CDH as well as the ...
Shakya V C - - 2009
Omphalocele is frequently associated with many other congenital malformations. In cardiac anomalies, association of omphalocele with dextrocardia has been rarely noticed before. We present here a child with dextrocardia and omphalocele alongwith a brief review of the literature on this rare association.
Stierman Sarah C - - 2009
Halo formation in association with congenital nevi is uncommon and is postulated to have an immunologic etiology. In this report, we present nine cases of patients with congenital nevi and vitiligo who uniquely developed both halo formation around the nevi in addition to vitiligo formation in distinctly separate locations. While ...
Kovacevic A - - 2009
BACKGROUND: For decades, the well-established standard recommended treatment for patients with congenital lobar emphysema (CLE) and respiratory distress has been lobectomy of the affected lobe or lobes, whereas indications for conservative management have been controversially discussed. PATIENTS/METHODS: Description of the clinical courses including the results of diagnostic procedures and the ...
Casaccia Germana - - 2009
To date, no systematic review of gastrointestinal anomalies associated with anorectal malformations has been performed. We report the management of three challenging cases of neonates affected by congenital gastrointestinal and anorectal malformations and we review the pertinent published reports to disclose the incidence and outcome of this combination. In 3951 ...
Williams Jennifer A - - 2009
Congenital right ventricular aneurysms and right ventricular diverticula are rare forms of congenital heart disease for which little information exists regarding optimal management, natural history, or prognosis. With advancements in prenatal cardiac evaluation and ultrasound, the reported frequency of these lesions, as well as a better understanding of the natural ...
Pharoah P O D - - 2009
BACKGROUND: The majority of cases of cerebral palsy (CP) have their pathogenesis during fetal development and are a form of congenital anomaly, the aetiology of which is uncertain. Anomalous development of other organs evident at birth is also a congenital anomaly. A small proportion of these are known to be ...
Babu Manohar K V - - 2009
Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the ...
Gershtenson Platina Coy - - 2009
Subungual pigmented lesions should raise concern about malignant melanoma. Blue naevus of the nail apparatus is a rare entity, with only ten cases described in the literature. We report a 21-year-old Hispanic woman with a slowly enlarging 1.7 x 2.3-cm subungual and periungual pigmented plaque present since birth on her ...
Kuhn Kevin M - - 2009
Congenital absence of the long head of the biceps (LHB) tendon is a rare condition. The literature describes unilateral cases, associations with other congenital developmental anomalies, and associations with shoulder instability and SLAP tears. We present a case with bilateral absent LHB tendons and subacromial impingement pathology in a patient ...
Morais Humberto - - 2009
Sinus of Valsalva aneurysms (SVA) are considered rare congenital anomalies. Apart from a few reported cases of SVA in African patients, there is little information on the clinical presentation of this entity in Africans. We describe the clinical and echocardiographic features of four consecutive African patients in whom the diagnosis ...
Biere Surya S A Y - - 2009
Polydactyly is defined as a congenital anomaly of the hand or foot with the presence of supernumerary digits. The frequency of polydactyly varies widely among populations. It can occur as an isolated condition or as a feature of a congenital condition. In the literature, the condition is commonly described in ...
Alkan Ozlem - - 2009
We report the results of a retrospective analysis of radiological and clinical findings in 45 cases of midbrain-hindbrain anomalies and review recent advances in embryology and molecular neurogenetics. Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of cerebellar hypoplasia, ten of posterior fossa cyst and ...
Aslanabadi Saeid - - 2009
Supernumerary nostril is an extremely rare congenital entity which results from aberrant embryological development. The review of the literature reveals that only 30 cases of supernumerary nostril have been reported. We report a rare case of supernumerary nostril in association with esophageal atresia, imperforate anus, and patent ductus arteriosus. To ...
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 ...
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