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Results 651 - 700 of 945
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Watanabe K - - 1994
A palmar dermatoglyphic study of 392 hands of patients with congenital hand anomalies was performed to evaluate the number of digital triradii, the position of an axial triradius, the incidence of hypothenar patterns, the pattern intensity, and the main line index. Remarkable variations, which are rare in normal hands, were ...
Frascone S T - - 1994
Congenital pedal deformities are well documented within the literature. The following article reviews a case history of a 4-year-old girl with a unique case of polymetatarsia and the complications associated with the resultant deformity. The history, case presentation, surgical treatment rendered, and follow-up care are presented. A review of the ...
Takano Y - - 1994
A rare case of the congenital patent urachus in an adult is reported. The patient, a 42-year-old man, was admitted with the chief complaint of macroscopic hematuria. During the cystoscopy perfusion water discharged from the umbilicus. Diagnostic imaging revealed a tubular fistula between the bladder and umbilicus and the patient ...
Saadah E S - - 1994
This case report describes phantom limbs in four adults with congenital limb deficiency. Case 1, with congenital absence of the left arm below the elbow, received a minor injury of the stump at age 16 and subsequently developed a full-length phantom arm, hand and fingers. Cases 2 and 3, at ...
Blackburn B L - - 1994
As part of an epidemiological study of congenital hydrocephalus in Utah, we focused on the effect of ascertainment sources and temporal variability to further delineate the causes of this relatively common, handicapping birth defect. The incidence and distribution of 934 reported cases diagnosed prior to age 6 months, and born ...
Ghidini A - - 1994
Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic ...
Martínez-Frías M L - - 1994
We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in ...
Esposito C - - 1994
Congenital segmental dilatation of intestine is a very rare pathology and up to date less than 50 cases have been reported in literature. Herein we report a case of segmental dilatation of ileum associated to diaphragmatic hernia. The main clinical and pathogenetic aspects are discussed, and the theory of a ...
Leung T N - - 1994
Four babies with congenital listeriosis were diagnosed in the Prince of Wales Hospital in Hong Kong in 1990-1991. Two died in the early neonatal period. The remaining 2 survived and recovered with no sequelae. The clinical and pathological features of these babies, together with those reported in the recent literature ...
Howard A C - - 1994
The authors report two cases of neglected bilateral congenital recurvatum of the knee, one in a ten-year-old girl and the other in a 23-year-old man. The treatment of this rare deformity in infancy and childhood is described. A surgical approach to the deformity, which is not known to have been ...
Martínez-Frías M L - - 1994
A child with complete syndactyly of cup shaped hands and mirror polysyndactyly of the feet, together with a nasal defect, was identified out of a total of 1,031,439 livebirths. She had a pattern of multiple congenital anomalies which was similar to that first described by Laurin et al in 1964 ...
Pinar H - - 1994
Fryns syndrome is a lethal, autosomal recessive syndrome of multiple congenital anomalies described by Fitch et al. in 1978 and Fryns et al. in 1979. As originally described, the major diagnostic criteria included abnormal facies; small thorax with widely spaced, hypoplastic nipples; distal limb and nail hypoplasia; and diaphragmatic hernia ...
Cheng J C - - 1994
Congenital ulnar pseudarthrosis is a very rare condition. Two cases are reported in addition to 36 already reported in the English literature. One of the cases reported had a "one-bone forearm" procedure done, with a satisfactory result after 6 years. The second case had a free vascularized fibula graft procedure ...
Foo K B - - 1994
Recent advances in medicine and biomedical science have brought in their wake a whole array of moral, ethical and medico-legal problems. For eg, in relation to the withholding or withdrawal of treatment of neonates born with congenital malformations. While the technology to treat and thus to artificially prolong life is ...
Song T B - - 1994
A few cases of congenital scoliosis due to segmentation failure have so far reported and the antenatal detection of pure congenital kyphosis without scoliosis due to segmentation failure has not been reported. We report the first prenatal identification using ultrasound of a fetus affected with pure congenital kyphosis due to ...
Huang T S - - 1994
This report reviews 12 cases of congenital cholesteatoma of the middle ear, mastoid, and petrous pyramid seen mostly in adult and older juvenile patients between 1984 and 1992. Featured herein are two unique instances of purulent discharge external to an intact tympanic membrane via a fistula caused by extensive mastoidal ...
Han Y M - - 1994
Adult presentation of congenital cystic adenomatoid malformation(CCAM) of the lung is so rare that only 5 cases have been reported in the literature to date. We report the case of a 19-year-old female with CCAM in the left lower lobe. Computed tomography showed a multilobulated cystic lesion with multiple air-fluid ...
Brichard B - - 1994
This report describes the cases of two young female patients with congenital dyserythropoietic anaemia (CDA) type I who presented similar hand and foot skeletal abnormalities: lack of distal phalanges and nails, and syndactyly. Up to now, some morphological malformations have been described in association with CDA type I but there ...
Patrizi A - - 1993
Congenital symmetrical interdigital hyperkeratosis is a rare disorder described by Frei in 1923, characterized by localized hyperkeratosis of the interdigital spaces of the hands and feet. The authors report the case of a 7-year-old girl affected by this condition. The skin hyperkeratotic lesions appeared localized exclusively to the interdigital spaces ...
Podskalny G D - - 1993
Reports of congenital anaplastic astrocytoma have been rare, representing less than 2% of all brain tumors. We present a case of a congenital anaplastic astrocytoma discovered during the first 24 hours after delivery. A recent literature review found 12 additional cases since 1972. The presenting signs, most common findings on ...
Czeizel A E - - 1993
A population-based and validated data set of 195 cases with isolated terminal transverse-type congenital limb deficiency was evaluated in Hungary, 1975-1984. Terminal transverse types of congenital limb deficiency are not usually associated with non-limb defects, and typically only one limb is affected. Upper limb is more frequently affected than lower ...
Baumeister F A - - 1993
Congenital hypertrichosis universalis is a rare autosomal dominant disease. We report the further development of a Greek girl, now aged 3 years, the first case associated with a balanced structural chromosomal aberration. She was described as a neonate by Sigalas et al. (1990). Her persistent generalized hypertrichosis is most excessive ...
Rasmussen P - - 1993
The author reports a series of 17 cases of congenital mirror movements of the hands and forearms (and in a few cases the toes), but no other signs of gross neurological deviation. This is an uncommon disorder that often goes unrecognised. This slight but definite disability seems to persist largely ...
Hift R J - - 1993
The administration of oral activated charcoal to two patients with congenital erythropoietic porphyria has previously been reported to result in a marked reduction in plasma and urinary porphyrin concentrations and in one case, clinical remission. We describe an additional case in which the use of charcoal was associated with an ...
Talab Y A - - 1993
Congenital pseudoarthrosis of the radius (CPR) is rare. Only ten cases seem to have been found in the literature. Congenital pseudoarthrosis of the radius usually is associated with neurofibromatosis or fibrous dysplasia. This is a report of a congenital pseudoarthrosis of the left radius associated with congenital dislocation of the ...
Nakamura J - - 1993
A case of bilateral insertion of flexor pollicis longus to the proximal as well as the distal phalanges is reported. Initially, this case was diagnosed as congenital absence of the flexor pollicis longus, but surgery revealed an intact tendon, with the abnormality only present in the site of insertion. A ...
Hatanaka T - - 1993
We examined maturational changes in the electrical blink reflex in 11 handicapped children, i.e., 4 cases of developmental delay, 4 of cerebral palsy, 2 of congenital hydrocephalus, and 1 of congenital cytomegalovirus infection. The developmental delay and cerebral palsy cases were all born at 25-36 weeks' gestation. In all cases, ...
Offori T W - - 1993
In cases of congenital lymphoedema the finding of ulceration, violaceous nodules or papules, or apparent traumatic ecchymoses should act as a diagnostic beacon warning of dangers. A case is reported of a high-grade angiosarcoma developing in a patient with congenital hereditary lymphoedema (Milroy's disease). This is the second paper to ...
Cosman B C - - 1993
Bilateral accessory tragus is a rare congenital malformation of the external ear. An isolated, nonfamilial occurrence of bilateral accessory tragus in a forty-three-year-old man is presented, and the literature is reviewed. Congenital firm, preauricular papules should be recognized as accessory tragi.
Gartlan M G - - 1993
Major congenital synechiae of the oral cavity constitute a clinically confusing spectrum of abnormalities. On the basis of clinical data, we propose two categories: 1) abnormalities secondary to persistence of the buccopharyngeal membrane and 2) abnormalities secondary to formation of ectopic membranes. An ectopic membrane results from abnormal fusion and ...
Chavda D V - - 1993
Congenital deformities occur in approximately 1% of all live births. The exact incidence of congenital foot deformities is unknown. The presence of a circumferential nail of the toe is a very rare deformity. In our review of the literature, we have encountered only two previously reported cases of circumferential toenails. ...
Wright J E - - 1993
Congenital absence of scrotal skin is extremely rare and no reports can be found in the literature. Few experienced pediatric surgeons have seen a case and no method of creation of a scrotum has been described. A patient with this condition is described, together with a method of construction of ...
Teunissen E - - 1993
In a series of 104 patients with congenital middle ear anomalies operated on from 1964 to 1986, 27 cases were found in which the stapes footplate was mobile and the conductive deafness was due to an anomaly in the remaining part of the ossicular chain. In 8 cases the middle ...
Vandenborre K - - 1993
In this report we describe the experience and follow-up data in 4 patients presenting the "VACTERL-hydrocephaly association". A review of the literature and the present data show that the inheritance pattern of this association is not clear at the present time and that data on the long-term prognosis are scarse.
Mittal R L - - 1993
A rural Indian population of 50,055 was studied for the detection of congenital orthopaedic anomalies by a door-to-door survey. An incidence of 2.25 cases per 1000 population was found. Club foot was the commonest anomaly at 0.9 per 1000, followed by polydactyly and syndactyly at 0.45 and 0.38 cases per ...
Hucke J - - 1992
To our knowledge, this is the first case report of hysteroscopic treatment of congenital uterine malformations with one-sided occlusion causing hemihematometra. This rare form of uterine anomaly should be considered when symptoms such as increasing pelvic pain start with menarche. A 9-mm resectoscope was used for dissecting the way into ...
Richardson P - - 1992
A single case of bilateral congenital mydriasis is described. A review of the literature is presented and possible modes of inheritance are discussed.
Rose N C - - 1992
A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal ...
Hogue C W CW - - 1992
Cor triatriatum is a congenital heart defect resulting in abnormal septation of the left atrium by a fibromuscular membrane. Echocardiography has improved the preoperative diagnosis of this rare congenital heart defect. We report a case where transesophageal echocardiography proved useful in the intraoperative diagnosis of a previously undetected cor triatriatum.
Legge R H - - 1992
Periodic alternating gaze is a rarely reported phenomenon. We have observed two cases that are unique in their early onset at birth and infancy. Multiple congenital defects of the posterior cranial fossa were present on MRI in both cases. A prominent abnormality shared by both was absence of normal structures ...
Hatjis C G - - 1992
We report a case of an early (22-week) prenatal diagnosis of type II congenital cystic adenomatoid malformation of the lung complicated by a mediastinal shift. Detailed ultrasound examination of the fetus, including fetal Doppler velocimetry and echocardiography, and diagnostic amniocentesis were normal. There was a gradual, spontaneous resolution of the ...
Clarke M P - - 1992
Congenital corneal anaesthesia is a cause of severe corneal ulceration and scarring in childhood. Although uncommon, it may be underdiagnosed when present as an isolated entity. Measures such as the use of elbow splints and tarsorrhaphy may be necessary to prevent visual loss. In rare instances, the condition may be ...
Dun G C - - 1992
The cases of 4 newborns with congenital syphilis (CS) seen in a rural hospital in Tanzania are reported. Clinical signs may be caused by other diseases than CS and are not conclusive. Therefore, uniformity in diagnostic criteria based on clinical symptoms and serology is essential for comparative clinical and epidemiological ...
Katsuragi M - - 1992
An extremely rare case of polyotia is presented. A seven-month old male had a congenital deformity of the right auricle, appearing like a large accessory auricular appendage. It had a small helix-like protuberance connecting to a very long helical crus; there was a conchal cavity between the external auditory meatus ...
Archer S M - - 1992
Congenital flaccid larynx, also known as laryngomalacia, is a common clinical entity accounting for approximately 60% of laryngeal problems in the newborn. It is a benign and relatively asymptomatic condition that patients often outgrow by 12 to 18 months of age. A variety of mechanisms have been proposed to explain ...
Banda S K - - 1992
A case of a 27 year old male who was found to have the unusual congenital absence of one internal carotid artery is presented. A second case with similar but slightly different X-ray findings due to occlusion of the internal carotid is presented for comparison. Only forty cases of agenesis ...
van Doornik M C - - 1992
The authors report a girl with left-sided hemiparesis and unilateral hydranencephaly of the opposite side. Her psychomotor development has been far better than expected--she is only mildly delayed. Hemihydranencephaly is a rare anomaly: only five other cases are reported in the literature, three of whom were also mildly delayed. The ...
Hale P C - - 1992
We report a case of adult pyloric obstruction caused by the delayed presentation of a congenital gastric diverticulum. The derivation, classification and treatment of these abnormalities are discussed.
Wu T J - - 1992
Congenital short bowel is a rare anomaly. Among the 21 cases reviewed in the literature, only four (19%) survived beyond infancy. We present a female infant with short small bowel, malrotation and floating colon, who was successfully treated with home central parenteral nutrition. Improved long-term survival in this group of ...
Nakamura K K Department of Plastic and Reconstructive Surgery, Toranomon Hospital, Tokyo, - - 1992
A very rare case of congenital skin tube pedicle with congenital constriction band syndrome was presented. Only one report concerning this bizarre abnormality could be found in the available literature, and no consideration of its etiology has previously been published. In our case, the skin tube was accompanied by the ...
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