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Amir R - - 2001
The relationship of choanal atresia to various systemic malformations is well acknowledged by the CHARGE acronym: colobomas, heart defects, atresia choanae, retarded growth and development, genito-urinary defects, and ear defects. In the past, we have reported the finding of an isolated skull base malformation associated with choanal atresia. We report ...
Bressers M M - - 2001
Congenital anterolateral bowing of the lower leg usually is a symptom of (impending) fracture because of congenital pseudarthrosis. This article reports a case of anterolateral bowing of the lower leg that is characterized by spontaneous correction and combination with duplication of the hallux. A review of the literature showed 10 ...
Olsen Ø E - - 2001
A case of congenital absence of the nose is presented. The etiology of this rare condition is unknown. A review of the literature reveals that the previously applied terms, e.g. 'arhinia', are unclear. In the reviewed cases there seems to be a pattern of facial anomalies associated with nasal absence. ...
Read R W - - 2001
PURPOSE: To report a rare case of rhabdomyomatous mesenchymal hamartoma and to compare its features with those cases previously reported. DESIGN: Interventional case report and literature review. INTERVENTION: Complete ophthalmologic and systemic examinations followed by excisional biopsy and histopathologic examination. MAIN OUTCOME MEASURES: Clinical examination features and histopathologic findings. RESULTS: ...
Thomas W O - - 2001
An 8 year-old girl had a large congenital nevus involving the posterior thigh, leg, and foot. The nevus on non-weight-bearing areas was resected, and the areas were resurfaced with artificial skin and ultra-thin split-thickness grafts. A good result was ultimately achieved. Our management of this case and the relative merits ...
Thakral C L - - 2001
A retrospective study of all cases (n = 21) of congenital lobar emphysema (CLE) treated at the Royal Hospital, Muscat, from September 1988 to August 1999 was performed. The presentation, diagnosis, treatment, and outcome are reviewed. All 21 patients were nonwhite. Thirteen had left-upper-lobe, 7 right-middle-lobe, and 1 right-upper-lobe involvement. ...
Bakunowicz-Lazarczyk A - - 2001
Trabeculectomy specimens from 10 patients with congenital glaucoma were studied by electron microscopy. In all cases proliferation of fibrous connective tissue was found from the inner wall of Schlemm's canal. Accumulation of collagen fibres, sometimes of varied thickness and irregular striation, and agglomerations of microfibrillar material with the structure of ...
Ing E B - - 2001
PURPOSE: An uncommon congenital anomaly of the eyebrows is described. METHODS: Case report and review of the literature. RESULTS: Two articles in the English literature were found describing patients similar to ours. CONCLUSIONS: Congenital upward tenting of the midportion of the eyebrows, resembling the eyebrow line of an owl, is ...
Reynolds J L - - 2001
We report a child with accelerated ventricular rhythm (AVR) and congenital heart disease. Three children with congenital heart defect associated with AVR were previously reported, but in each AVR occurred only postoperatively. Because our patient's 24-hour electrocardiograph recording showed AVR rates, and differences between sinus and AVR rates, exceeding published ...
Gatti A F - - 2001
Two rare cases of congenital mucoceles in newborn babies are reported. The patients presented with nodular swellings on their lower lips at birth with no obvious local aetiology. In both cases the mucoceles interfered with normal feeding. The lesions were excised by surgical approach under general anaesthesia and histopathological examination ...
Salinas G G Shriners Hospitals for Children, Los Angeles, CA 90020-1199, - - 2000
Neglected congenital clubfoot in adults has been described in literature, but is not common to see adult patients with this orthopaedic disorder in developed countries with 30 years of follow-up. We report an asymptomatic case of neglected congenital clubfoot in an adult, who is incidentally seeking treatment for her 18-month-old ...
Cruz M C - - 2000
The presence of accessory mitral valve tissue in the left ventricular outflow tract (LVOT) is a rare cause of obstruction. Previous cases reported in the literature are associated either with other complex congenital abnormalities, or with other forms of LVOT obstruction. This report presents the first case of a duplication ...
Parameswaran R - - 2000
Congenital afibrinogenaemia and hypofibrinogenaemia are rare disorders of haemostasis. In this case report the problems posed in the management of two patients with fibrinogen levels less than 0.1g L(-1) and who developed intracranial bleeding are considered. The value of fibrinogen concentrate and the role of prophylaxis is also discussed.
Arnold S R - - 2000
Although congenital syphilis is a rare disease in Canada, infected infants may experience severe sequelae, including cerebral palsy, hydrocephalus, sensorineural hearing loss and musculoskeletal deformity. Timely treatment of congenital syphilis during pregnancy may prevent all of the above sequelae. However, the diagnosis of suspected cases and management of congenital syphilis ...
Alfadley A - - 2000
We report a 19-year-old man with congenital erythematous plaque on his left arm that was found histopathologically to be composed of respiratory mucosa. The patient had a triphalangeal thumb and polydactyly in the left hand. This is, to our knowledge, only the third case of ectopic respiratory epithelium presenting as ...
Kodsi S - - 2000
Congenital ocular aberrant innervation syndromes are a complex group of disorders involving abnormal miswiring of the extraocular muscles. This case report describes a child with both a right Marcus Gunn jaw winking phenomenon and a right trigemino-abducens synkinesis, which has not previously been reported in the literature. Clinically, this child ...
Khwaja G A - - 2000
The term 'congenital myasthenic syndrome' (CMS) encompasses a number of heterogeneous disorders characterised by myasthenic symptoms since birth, usually with positive family history and absence of acetyl choline receptor antibodies. Recent advances in electrophysiology and ultrastructural analysis of neuromuscular junction have made it possible to identify the various defects underlying ...
Krengel S - - 2000
Congenital enlargement of one or several digits of the hands or feet (macrodactyly) is a rare disorder. A considerable proportion of the patients with this condition are referred to dermatology departments. The majority of the cases reported in the literature represent hamartomas with combined hypertrophy of several, predominantly lipomatous, soft ...
Yamagami T - - 2000
We describe an infant with intrahepatic portosystemic venous shunt (IPSVS), which was detected by MR angiography. IPSVS is rare and its cause is disputed. However, with improvements in imaging the number of reports of IPSVS identified incidentally in patients without definite symptoms is increasing. The present case is the first ...
Goyen M - - 2000
Radiography of the pelvis may incidentally reveal a rare congenital anomaly called "pelvic digit" and it is important to be aware of its existence in order to differentiate it from acquired abnormalities due to trauma. A case of a pelvic digit with CT correlation is presented and the literature is ...
Leestma J E - - 2000
An unexpected finding at autopsy of almost complete agenesis of the cerebellum in an apparently functional, mentally subnormal 38-year-old man who died as the result of an accidental electrocution is reported. The posterior fossa was normal in appearance despite nearly complete absence of the cerebellum. A number of syndromes of ...
Wakai R T - - 2000
We report high precision assessment of fetal rhythm in utero in a case of isolated congenital complete heart block using fetal magnetocardiography. The recordings reveal a remarkably strong tendency for the atria and ventricles to synchronize, which is manifested by the continual presence of ventriculophasic sinus arrhythmia and frequent episodes ...
De Unamuno P - - 2000
Multiple clustered dermatofibroma (MCD) is a rare tumour which usually appears during the first and second decades of life. We report a man in whom the MCD was congenital, although during the first few years of his second decade it extended to involve a broad zone on the left hip, ...
Duran-McKinster C - - 2000
Three cutaneous manifestations are characteristic of Bart syndrome: congenital localized absence of skin (CLAS), mucocutaneous blistering, and nail abnormalities. Six cases of Bart syndrome are herein reported. Localized absence of skin is present at birth, particularly on the anterior aspects of the lower extremities and dorsa of the feet. Physical ...
Lescault E - - 2000
Congenital radioulnar synostosis (CRS) is a developmental deformity that interferes with pronation and supination of the upper extremity. CRS often results in functional, cosmetic, and cultural limitations. The purpose of this paper is to present a patient with CRS who is currently functioning as a generator mechanic in the U.S. ...
Manzar S - - 2000
We present an interesting case of a preterm Omani newborn that had delayed onset of congenital diaphragmatic hernia in association with group B streptococcus infection. The association and the pathogenesis are supported by literature review. The message to follow is that any neonate with prolonged course of streptococcal pneumonia, with ...
Checketts S R - - 2000
Dermatofibrosarcoma protuberans (DFSP) occurs most commonly on the trunk, affects all races, and often develops between the second and fifth decades of life. It is uncommon in childhood and is sometimes mistaken for a vascular lesion, as it often presents as a blue macule or small nodule. Review of the ...
Theodorou S D - - 2000
In a previous paper published in this journal, we reported two cases of "Congenital Sensory Neuropathy with Anhidrosis" with reference to the orthopedic complications (Theodorou et al., 1985). We now present a new typical case, under the currently used term: "Congenital Insensitivity to Pain with Anhidrosis" (CIPA) and a brief ...
de Palma L - - 2000
A dissection was carried out on bilateral congenital convex pes valgus in a newborn who died of congenital visceral malformations. The main finding was a modification in the neck-body relations of the talus. Nearly all muscles showed morphologic alterations. No insertional or histologic anomalies were shown. The plantar calcaneonavicular ligament ...
Turchin A - - 2000
Situs inversus totalis and single coronary ostium are rare congenital anomalies, and no ontogenic connection has been described between them. Only three cases of association of single coronary ostium and situs inversus have been reported in the literature, all found on angiography. Here we present the first case of this ...
Lew H - - 2000
Inverse Duane's retraction syndrome is very uncommon. Congenital cases are even more unusual. A 6-year-old girl with convergent squint along with severe restriction on abduction is described. On attempted abduction, a narrowing of the palpebral fissure, upshoot and retraction of the eyeball were observed. Brain and orbit MRI demonstrated no ...
Sichel J Y - - 2000
Congenital malformations of the larynx are relatively rare but may be life-threatening. The most common causes include laryngomalacia, vocal cord paralysis, and subglottic stenosis. The last 20 years has seen major advances in the field of surgical correction of such anomalies also serving to reduce the number of tracheotomies in ...
Nawaz A - - 2000
The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) is rare, but is known distinct clinical entity with autosomal recessive inheritance. The outcome of such an association was universally fatal. This is a report of two newborns with EB and CPA, associated with additional aplasia cutis congenita in ...
Chandran H - - 2000
We report a case of congenital cystic adenomatoid malformation (CCAM) and extralobar pulmonary sequestration (EPS) occurring independently in the ipsilateral hemithorax. A literature search using Medline, Winspirs 2.0, found 14 previously reported cases of CCAM within an EPS. There are no reports of each form of congenital pulmonary abnormality occurring ...
Sato M - - 2000
Congenital absence of the horizontal portion of the left portal vein is very rare and has been very reported sporadically. We present three such cases referred from other hospitals with a diagnosis of intrahepatic vascular anomaly. Color Doppler ultrasound not only confirmed the diagnosis but also allowed a quantitative measurement ...
Ito K - - 2000
In this paper, 2 patients, a daughter with periodic alternating nystagmus and a mother with congenital fixation nystagmus, are presented, and the similarities of the two disorders are discussed, not only in the eye movements, but also in their underlying abnormalities. The literature was reviewed, and the link between periodic ...
Bon A M - - 2000
We present a second case of alopecia areata sparing a congenital nevus of the eyebrow. This inverse counterpart of perinevoid alopecia is discussed and placed in context to the recently described Renbök phenomenon. According to the present definition of a nevus as a genetic mosaic, a genetically determined resistance to ...
Kaneko K - - 2000
We report a case of pigmented villonodular synovitis (PVNS) in an adolescent with monarticular involvement of the ankle and without congenital anomalies or sibling involvement.
van Veenendaal M B - - 2000
Congenital absence of the trachea is a rare cause of severe neonatal respiratory distress. Experimental studies show that it is probably caused by disorders in a system of folds in the tracheo-oesophageal space rather than abnormalities of a tracheo-oesophageal septum. A literature review disclosed 82 cases of tracheal agenesis, which ...
Jang H S - - 2000
Congenital smooth muscle hamartoma (CSMH) with follicular spotted appearance is a rare clinical variant of CMSH in which patients have marked perifollicular papules in the patches. A linear distribution of CSMH is also extremely rare. We report a 16-year-old Korean girl with this uncommon form of CSMH who had linearly ...
Fujimoto Y - - 1999
The authors describe a case of an infant with congenital factor X deficiency. The patient presented with a central nervous system hemorrhage followed by hydrocephalus. He underwent a ventriculoperitoneal shunt and, during the postoperative period, developed a spontaneous epidural hematoma, which was evacuated. The clinical and pathophysiological aspects of this ...
Tsang J C - - 1999
We report a rare case of severe hemolytic anemia following repair of a congenital heart defect without the use of prosthetic material. A review of the literature, diagnosis, and management are described. Although this is an unusual complication following congenital heart surgery, a high index of suspicion must be maintained ...
Vyas B K - - 1999
Bilateral congenital trigger thumb is a relatively uncommon condition, with few well documented cases in literature. Lack of awareness and mode of presentation creates diagnostic confusion to a majority of physicians who are not familiar with this condition. There is also controversy surrounding its aetiology, natural course, ideal treatment and ...
Abrahamsson M - - 1999
PURPOSE: To estimate the occurrence of congenital cataract in a Nordic country. METHODS: In 1980, we constructed a database in the Department of Ophthalmology, Göteborg University, containing basic data from all cases in western Sweden diagnosed with congenital cataract. By collecting and processing these data from 1980 onwards, we hoped ...
Nandapalan V - - 1999
Isolated congenital anomalies of the ossicles are rare. The majority of cases of congenital conductive hearing loss secondary to middle-ear anomalies have other associated defects, such as atresia, microtia and craniofacial deformities. We present a rare case of isolated congenital stapes suprastructure fixation, where a monocrural stapes with a mobile ...
Dailey R A - - 1999
PURPOSE: To present a patient with congenital entropion of the upper eyelid caused by levator aponeurosis disinsertion. METHODS: Case report. RESULTS: Surgical correction of the levator aponeurosis disinsertion corrected the upper eyelid entropion. CONCLUSIONS: Congenital upper eyelid entropion may be caused by levator aponeurosis disinsertion and treated effectively by repairing ...
Witoonchart K - - 1999
Congenital pseudarthrosis of the forearm is a rare condition; approximately 60 cases have been reported in the English literature. We report 3 patients treated by wide excision of the pseudarthrosis and free vascularized fibular grafting. The pseudarthrosis involved the radius in 1 patient and the ulna in 2. Neurofibromatosis was ...
Nezhat C R - - 1999
An 18 year old nulligravid woman presented with severe dysmenorrhoea secondary to stage IV (revised American Fertility Society) endometriosis, right haematosalpinx, right endometrioma, unicornuate uterus and two cavitated, non-communicating rudimentary uterine horns. To our knowledge, this is the first reported case of a unicornuate uterus accompanied by two rudimentary horns. ...
Yamada T - - 1999
Ectopia cordis is a rare congenital anomaly. We present 4 cases of ectopia cordis, 1 of which is the first report of an affected fetus in a triplet pregnancy. The morphological relationship between the types of ectopia cordis and their outcomes were investigated in all 4 cases. In addition, the ...
Nunes M L - - 1999
The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation of this patient included screening for infections, computed tomographic ...
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