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Results 551 - 600 of 945
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Nakatsui T C - - 1999
Eccrine angiomatous hamartoma is a rare condition characterized histologically by increased numbers of eccrine structures and numerous capillary channels. Patients characteristically have a solitary, congenital nodule that may be painful and that may show hyperhidrosis. It is important to recognize this condition because it is a benign lesion for which ...
Mandal A K - - 1999
The association of unilateral primary developmental glaucoma with iridotrabecular dysgenesis and congenital ectropion uveae has been well documented in the literature. The glaucoma in this entity may present at birth, infancy or may develop at a later stage in life. I report the case of a child with late-onset unilateral ...
Cambiaghi S - - 1999
Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the absence of other ectodermal or systemic abnormalities. Only large pedigrees consistent with autosomal dominant transmission have been described to date. In this article the clinical and scanning electron microscopy findings ...
Clarós P - - 1999
Agenesis, aplasia and hypoplasia of the internal carotid arteries (ICA) are rare congenital disorders with few descriptions in the otorhinolaryngological literature. We present two cases of major abnormalities of the ICA, one with isolated hypoplasia and another with agenesis associated with ear malformation and facial palsy. We briefly review the ...
Haddad I K - - 1999
We present an uncommon severe first branchial arch congenital malformation, in which complete unilateral bony fusion between the maxillary and mandibular processes was found in a newborn exposed to carbamazepine medication all through pregnancy. This condition interferes with oral feeding, intubation, growth and development. In a review of previously reported ...
Alves G F - - 1999
We describe a Brazilian girl with a congenital circumferential nail on her left ring finger associated with other bony and soft tissue abnormalities of the affected limb. The tubular nail plate resembling a punch biopsy has been described as a circumferential nail, an extremely rare congenital malformation that can be ...
Kohda E - - 1999
Congenital absence of the portal vein (CAPV) is a malformation that is generally thought to be limited to females. We encountered an 11-year-old boy with this malformation. In 17 previously reported cases of CAPV, 2 were male. Three male patients, including our case, were Abernethy type Ib malformation. They had ...
Stroh B - - 1999
Bifid epiglottis is a rare congenital defect that is often associated with other congenital annomalies. The most common defect associated with a bifid epiglottis are anomalies of the hands and/or feet (90%) while the most dangerous and potentially lethal anomaly if not recognized and treated are hypothalamic hamartomas and hypopituitarism ...
Chadha R - - 1999
Complete transposition of the penis and scrotum, or prepenile scrotum, is an uncommon congenital malformation. Concomitant genitourinary abnormalities, often life-threatening in nature, are frequently seen, and major malformations involving other organ systems may also be present. We report a newborn in whom complete penoscrotal transposition was accompanied by urethral atresia ...
de Smet L - - 1999
This is a case of bony overgrowth in a congenital agenesis stump, treated successfully with an autologenous stump plasty.
Izzo P - - 1999
In this study we report results regarding erythrocytes deformability in congenital dyserythropoietic anemia type II (HEMPAS) by the use of LORCA (Laser-assisted Optical Rotational Cell Analyzer). The reduced erythrocytes deformability observed in seven case of CDA II is caused by changes in the structure of glycoproteins due to the incomplete ...
Zacharin M - - 1999
A report is made concerning fertility and its complications in a patient with salt losing congenital adrenal hyperplasia. Fertility with a successful outcome of pregnancy has rarely been reported in women with salt losing congenital adrenal hyperplasia. Problems which have been identified in the past include non-compliance, poor endocrine follow ...
Ladas I D - - 1999
We present the cases of 2 consecutive siblings with bilateral macular lesions, for which there is strong clinical and laboratory evidence supporting the diagnosis of congenital ocular toxoplasmosis. These cases raise the possibility of maternal parasitemia during Toxoplasma gondii reinfection, leading to transmission to the fetus and congenital ocular toxoplasmosis ...
Hsiao C C - - 1999
A case in which inflammatory pseudotumor of the liver (IPTL) seemed to complicate severe congenital neutropenia (Kostmann's disease) is reported. IPTL is a rare entity, especially in childhood. The exact etiology of this lesion is unknown, but it is generally regarded as a benign, reactive inflammatory condition. Based on 15 ...
Ogunbiyi A O - - 1999
Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters ...
Smrcka V - - 1999
We tested the grip in four patients with congenital defects of the hand and either a hypoplastic thumb or a thumb with impaired inervation. Small objects were taken by a scissors grip between the fingers. In a hand with radial duction in the manus vara congenita, during strengthening of the ...
Chen Q - - 1999
We report 3 cases of cor triatriatum that were diagnosed late, in the 4th and 5th decades of life. The presentations of these 2 men and 1 woman varied substantially, both in anatomic and symptomatic aspects. The woman had an associated complex congenital anomaly, which is not uncommon in cases ...
Stoll C G - - 1999
OBJECTIVES: To provide data on polyhydramnios associated with congenital anomalies in 225,669 consecutive pregnancies. MATERIAL AND METHODS: The information in this study came from births of known outcome recorded in our registry of congenital malformations. Routine ultrasonographic examination was performed. Polyhydramnios was diagnosed ultrasonographically. A case-control study allowed the examination ...
Nogueira A - - 1999
A new case with 14-year follow-up of an extremely rare variety of congenital hand macrodactyly is presented. The disease characteristically presents a diffuse proliferation of fibrofatty tissue, but in this special type, osteocartilaginous deposits around the joints can also be found. The case presented included the troublesome feature of a ...
Tsugu H - - 1998
We report 2 patients with hypothalamic hamartoma associated with multiple congenital abnormalities and analyze 42 (including our own) reported cases, including our 2 cases, of hypothalamic hamartoma or hypothalamic hamartoblastoma with multiple congenital abnormalities, to understand the timing of their occurrence and clarify the prognosis. To this end, we classified ...
Bolt R J - - 1998
Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that ...
Altavilla G - - 1998
Congenital absence of portal vein (CAPV) is a rare vascular malformation: all 16 cases up to now reported are associated with other congenital anomalies and with benign or malignant hepatic neoplasms. Our report concerns a girl with a complex malformative syndrome consisting of CAPV, nodular tumor-like hyperplasia of the liver, ...
Faust R A - - 1998
Congenital complete and near-complete tracheal rings are extremely rare tracheal deformities. There are fewer than 100 cases of congenital complete tracheal rings, and only four cases of near-complete described in the literature. Long-segment occurrences of these anomalies are usually incompatible with life. We describe the presentation of the long-segment near ...
Koh E T - - 1998
We report the case of a newborn Indian girl with congenital sodium diarrhoea (CSD) who presented typically in utero, in whom diagnosis was made from markedly raised stool sodium in the presence of an alkaline stool. Treatment with sodium citrate normalised her metabolic and electrolyte status but resulted in transient ...
Forstner R - - 1998
Lymphangiomatosis is an extremely rare congenital disorder affecting visceral organs and/or the skeletal system. In bone is is usually characterized by multiple lytic lesions with a lacelike pattern and sclerotic margins of various thickness. In this case report we demonstrate the rare sclerotic variant of lymphangiomatosis. We report the development ...
Pappas D G DG - - 1998
OBJECTIVE: To document an association of round window atresia with congenital stapes fixation, discuss the diagnostic role of computed tomography, and implicate the clinical significance of these anomalies. STUDY DESIGN: Retrospective chart review and review of the literature. RESULTS: The authors report three pediatric cases of round window atresia. All ...
Kroes E J - - 1998
Congenital microgastria is an uncommon result of impairment of normal foregut development. To date, only 39 cases have been described in the literature. We report a boy born with microgastria and bilateral hypoplastic kidneys who had feeding problems, resulting in failure to thrive and growth retardation. After a short period ...
Kurto─člu S - - 1998
Collodion baby is a rare congenital disorder resembling harlequin fetus but is milder in degree. Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease ...
Porcu A - - 1998
Congenital cystic adenomatoid malformation (CCAM) of the lung is a neonatal disease not often found after the first year of life and extremely rare in adults. Three cases of CCAM, one in a ten-year-old girl and two in adults, are reported. An understanding of this disease is important because, although ...
Ivanovi-Herceg Z - - 1998
Bronchopulmonary sequestration (BPS) is usually a rare congenital anomaly, which is most frequently extralobar or intralobar. The case of a patient with positional congenital anomaly--dextrocardia (situs thoracalis inversus) and intrapulmonary sequestration (IPS) is presented. Clinical and radiological characteristics of EPS and IPS are discussed, and new combinations of congenital anomalies ...
Singalavanija S - - 1998
Harlequin fetus is a rare and the most severe form of congenital ichthyosis. Most of the infants die within a few weeks after birth due to sepsis and respiratory difficulties. The case of a female harlequin baby is reported. The baby survived because of good neonatal intensive care, topical emollients ...
Sidhu-Malik N K - - 1998
Congenital erosive and vesicular dermatosis healing with reticulated, supple scarring is a rare disease with seven reported cases in the literature. This congenital cutaneous defect of unknown etiology presents with patchy or generalized erosions and vesicles at birth that heal with striking reticulated scarring. We report three new cases of ...
Jeng C L CL Department of Orthopaedic Surgery, Johns Hopkins Hospital, Baltimore, Maryland, - - 1998
Congenital absence of the fibular sesamoid of the hallux is an extremely rare condition. We could find only one previously reported case in the literature. The authors present a second case of congenital absence of the fibular sesamoid and a review of the literature regarding the clinical significance of this ...
Kiliçarslan B - - 1998
Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare pulmonary lesion, characterized by an excessive overgrowth of the terminal respiratory bronchioles. The lesion is almost always unilateral and may occur in any lobe. We present two children with CCAM. The first case was a one-day-old female infant admitted ...
Guariso G - - 1998
Congenital absence of portal vein is a rare malformation. To date, 16 cases have been reported--all in association with other anomalies, i.e. benign or malignant hepatic neoplasms in 6 cases and cardiac malformations in 12. This case report described a girl with congenital absence of portal vein, focal nodular hyperplasia ...
Lo F S - - 1998
Solitary maxillary central incisor (SMCI) and congenital nasal pyriform aperture stenosis (CNPAS) have been reported as an isolated morphogenic defect or associated with pituitary deficiency, holoprosencephaly, ocular coloboma, or chromosomal abnormalities. We report two cases and analyse 40 cases of SMCI and 24 cases of CNPAS, including 15 cases of ...
Baysal T - - 1998
Myositis ossificans progressiva (MOP) is a rare hereditary connective tissue disorder characterized by progressive ossification of striated muscle and connective tissue associated with pain and disability. It is presumably transmitted as an autosomal dominant defect. Congenital anomalies of the hands and feet are early signs of this disease. Involvement of ...
Smrcka V - - 1998
The authors describe a case of an inborn contracture of the superficial flexors of the three-phalangeal fingers in a 15-year-old girl and treatment of the condition. For clinical purposes a classification on congenital deformities in the proximal part of the flexor complex was proposed in which the described case is ...
Kuga T - - 1997
The authors report a case of congenital cystic adenomatoid malformation of the lung (CCAM) with extramedullary hematopoiesis (EMH). A baby girl suffered from Rh incompatibility and hemolytic anemia. She exhibited respiratory distress. Chest radiography and magnetic resonance imaging findings showed a CCAM. A resection of the upper and middle lobes ...
Khan N - - 1997
A rare case associated with congenital hematometrocolpos in a circumcised 13 years old Somalian girl is presented. Emphasis on proper history is highlighted. Mutilation caused by bad cultural practice of female circumcision which is although not a problem in Pakistan, is brought into notice for those who may be unaware ...
de Die-Smulders C E - - 1997
We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult ...
Gemechu T - - 1997
A 54-year-old Ethiopian woman presented to Tikur Anbessa Hospital with left flank pain and left renal tumour mass in October 1996, and biopsy from nephrectomy specimen was reported as classical congenital mesoblastic nephroma (CMN). The clinical presentation, laboratory data and the pathologic findings of the patient are described in detail. ...
Mathur P - - 1997
Congenital non-obstructive dilatation of penile urethra (megalourethra) can result from absence of corpus spongiosum alone (scaphoid) or along with the absence of corpora cavernosa (fusiform). Associated urogenital or other systemic anomalies are usually present and require detection and appropriate management. Urethroplasty (Nesbitt) gives desirable results. Condition has been reviewed with ...
Strouse P J - - 1997
Congenital abnormalities of the umbilical venous system are rare. A case of fatal right congenital diaphragmatic hernia (CDH) in association with an anomalous umbilical vein bypassing the liver and directly entering the right atrium is presented. The ductus venosus was absent. Although much of the liver was within the right ...
Wallerstein R - - 1997
There have been a small number of documented cases of isolated congenital diaphragmatic hernia and ipsilateral limb defects. Early cervical neural crest injury has been postulated as the mechanism behind the coexistence of these two defects. We present a case of left-sided congenital diaphragmatic hernia and ipsilateral radial ray defect ...
Kucera J - - 1997
Xanthinuria is an uncommon metabolic disorder clinically manifested as urolithiasis. There are two forms of the disease, congenital and iatrogenic. The former was diagnosed in a four-year-old dachshund bitch. The patient was presented with signs of terminal chronic renal failure. Urine was bacteriologically sterile with massive amorphous crystalluria. Bilateral nephrolithiasis ...
Karnak I - - 1997
Congenital abnormalities of the anterior urethra other than hypospadias (valve, diverticulum, and megalourethra) are rare conditions and can be difficult to diagnose. Based on five recent cases of these urethral abnormalities, we review the embryology and the English literature, and have found reports of about 100 cases of valve and ...
Sharma A K - - 1997
Megalourethra is a rare congenital anomaly characterized by severe dilatation of the penile urethra. Four cases of congenital megalourethra were seen at Sir Padampat Mother and Child Health Institute, Jaipur, during the last 10 years. Three cases of scaphoid megalourethra had no other associated congenital anomalies and were treat-ed successfully ...
Horejsí J - - 1997
Clitoral hypertrophy is usually seen in congenital malformations, specifically in intersexual stages of hormonal expression. Acquired clitoral hypertrophy is a relatively rare condition, and data in the literature concerning this problem are sparse. Articles usually consist only of case reports. Among the contributing factors in the etiology of acquired clitoral ...
Damsin J P - - 1997
STUDY DESIGN: This case report illustrates a scoliotic patient with congenital fusion of several ribs associated with a thoracic curvature. OBJECTIVES: To report the procedure used to correct scoliosis in association with congenitally fused ribs. SUMMARY OF BACKGROUND DATA: All cases of congenitally fused ribs reported in the literature are ...
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