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Results 701 - 750 of 945
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Nielsen J S - - 1992
The occurrence of a new congenital defect of the appendicular skeleton in Mohair goats is described. The malformation is peromelia and occurs in a familiar pattern. The defect seems to have an autosomal recessive mode of inheritance with variation in the expressivity of the genotype. The pathological abnormalities were described ...
Afifi A M - - 1992
We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic dystrophy is not a rare cause of nonimmune hydrops fetalis ...
Hamada H - - 1992
We here report a case of trisomy 21 with congenital chylothorax. The patient was a male newborn who had been diagnosed as having trisomy 21 with congenital chylothorax. This is the fifth case of the both conditions in English literature. Congenital chylothorax is very rare in a trisomy 21 patient. ...
Peltz R - - 1992
Polydactyly is a fairly common congenital foot deformity. Treatment may include simple shoe modification or surgical intervention. Careful preoperative planning must be undertaken with each patient because of the uniqueness of each individual case. A case of type A postaxial polydactyly was presented with a brief review of classification, etiology, ...
Morax S - - 1992
Two cases of congenital symblepharon (variant of cryptophthalmos) are reported. Cryptophthalmos is a very rare congenital defect, with incomplete or complete failure in the development of one or both eyelids with skin recovering the anterior segment. Surgical treatment is described including expansion of the conjunctival fornix with eyeball conservation if ...
Sansone G - - 1992
The case of a 13-year-old child with a congenital dyserythropoietic anaemia (CDA) is reported. A severe anaemia associated with a slight increase in reticulocytes, erythroblastosis, hyperbilirubinaemia, hepatosplenomegaly, generalized oedema and hypoproteinaemia was present at birth. Three exsanguino-transfusions were needed in the first 4 days of life. In the following years ...
Tsukahara H - - 1991
Herein we report an infantile case of congenital hydrocolpos combined with left renal agenesis which presented with an abnormal mass protruding from the vaginal introitus. The diagnosis was made shortly after birth by ultrasonography and confirmed by other radiologic diagnostic methods. This case highlights the value of ultrasonography in diagnosing ...
Blomquist H K - - 1991
A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle-niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on ...
Gongaware R D - - 1991
Only one case of a rare anomaly, a congenital defect in the integrity of the scrotal wall permitting egress of the testis to an ectopic extracorporeal location, has been previously reported. A second occurrence of this rare anomally is herein described with a proposed mechanism of occurrence. The condition is ...
Mason W H - - 1991
A case of congenital cleft foot deformity, also known as lobster claw or split foot, is presented. The condition is rare. A review of the literature reveals that this deformity will often coexist as part of a constellation of congenital and familial abnormalities. Surgical correction of the cleft foot is ...
Divaris D X - - 1991
Congenital self-healing histiocytosis (CSHH) is a rare primary skin disorder. Of the two cases in newborn infants reported here, one had numerous widespread lesions while the other had a solitary ulcerating scalp nodule. Both neonates were otherwise healthy; neither exhibited either systemic involvement or involvement of mucous membranes. The findings ...
Benjamin B - - 1991
Congenital interarytenoid web is a rare laryngeal anomaly whose distinctive feature is a band of tissue joining the medial surfaces of the arytenoids and restricting abduction of the vocal cords. It appears to arise from persistence of the embryonic membranous interarytenoid layers, which form the epithelial lamina of the fetal ...
Spiro S A - - 1991
True internal jugular vein aneurysms are exceedingly rare anomalies. To date very few case reports have appeared regarding this entity. We present a case of a congenital internal jugular venous aneurysm which manifested itself after abdominal surgery and prolonged positive pressure ventilation. A theory regarding its manifestation is presented. We ...
Parrish K L - - 1991
Subglottic stenosis, a laryngeal narrowing, can be either congenital or acquired. There are various anatomic abnormalities of the cricoid that explain the congenital types. The acquired type is due to prolonged intubation in 90% of cases. Anterior cricoid split can obviate the need for a tracheotomy in the neonate with ...
Blauth W - - 1991
In cases of congenital partial tibial aplasia or so-called diastases of the lower leg, very good results are to be expected from tibia/fibula fusion in association with a repositioning of the foot. Form and function of the limb are significantly improved, with ortho-prosthetic fitting being considerably facilitated.
Pryor G A - - 1991
A review of 77 neonates who presented with congenital talipes equinovarus over a seven-year period revealed an increase in the condition amongst babies born in the winter quarter. This finding was particularly apparent among the less severe cases of club-foot. Possible reasons for this seasonal variation are discussed.
Ghiorghis B - - 1991
A third leg with almost all its components and not associated with other congenital malformation is exceedingly rare. It has never been reported in Ethiopia and a review of the medical literature confirms that this is a very rare type of congenital malformation. A case is reported of an Ethiopian ...
Suetake M - - 1991
A case of bilateral congenital cholesteatomas, which occurred in a 15-year-old male was reported. His family had been aware of his hearing impairment since he was 3 years old. He had experienced neither otalgia nor otorrhea. Tympanograms were A type bilaterally, and an audiogram showed conductive hearing loss of about ...
Lam H S - - 1991
An interesting case of bifid blind-ending ureter occurring in a young Indian girl is reported. She presented with severe recurrent right iliac fossa pain for which she underwent appendicectomy which did not resolve her symptoms. Subsequent urological investigation--IVU and retrograde pyeleogram--revealed the genuine diagnosis. Surgical excision of the blind-ending branch ...
Sharma A K - - 1991
Congenital intraluminal esophageal diaphragm causing complete obstruction is a rare anomaly. By esophagoscopy, a complete membranous diaphragm was demonstrated, perforated, and excised. In the English language literature, this case represents the first report of an isolated membranous atresia at the lower end of the esophagus. A brief review of the ...
Kogutt M S - - 1991
The incidence of multiple or bilateral bronchopulmonary foregut malformations is unusual, and has rarely been reported in the literature. The presence of symptomatic concurrent, different malformations in the same patient, as described here, has not been previously reported. The spectrum of these congenital lesions is wide, and each form may ...
Shigemi H - - 1991
In this report, we presented 3 cases of congenital middle ear cholesteatoma which occurred in a 12-year-old girl, a 4-year-old boy, and a 6-year-old boy. In all 3 cases, there was a whitish mass behind a normal tympanic membrane. Congenital middle ear cholesteatoma is not a rare disease. In the ...
Wong M L - - 1991
Hereditary palmoplantar keratoderma (1) has been found to be associated with syndromes such as corneal defects, (2) periodontosis, carcinoma of esophagus but not so much with congenital heart disease. A case of Tylosis with pulmonary stenosis is reported. Very many hereditary disorders characterised by diffuse or focal thickening of the ...
Vickers E D - - 1990
Anomalies of the atlantoaxial articulation are discussed with emphasis on os odontoideum. Normal and abnormal embryological and anatomical characteristics are described, as is their relevance upon stability of the upper cervical segments. This paper further discusses and reviews theories pertaining to the congenital and acquired forms of os odontoideum and ...
MacMillan A R - - 1990
Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lesion. Presented here is a review of the literature concerning this condition, with the report of a case with clinical signs indistinguishable from those of unilateral facial hyperplasia. Previously unreported clinical and radiographic features of regional bony hypertrophy and macrodontia ...
Elgart G W - - 1990
We report the case of a polypoid nodule on the chin of an infant. Microscopically, the lesion featured numerous pilosebaceous units, eccrine sweat glands, arrectores pilorum muscles, mature adipose tissue, and prominent admixtures of skeletal muscle. This lesion has much in common with the accessory tragus, and is similar to ...
Glickman S H - - 1990
A literature review of the etiologies and treatments of both hallux varus and brachymetatarsia is presented. An unusual case report of a young girl with bilateral congenital hallux varus and brachymetatarsia of the first metatarsal is then discussed. A detailed account of the surgical correction consisting of autogenous bone grafts ...
Rein A J - - 1990
Genetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited. ...
Sexton M - - 1990
The hairy polyp of the oronasopharynx is a rare congenital malformation that has been classified as a dermoid, teratoid, teratoma, or hamartoma in the past. A case of oropharyngeal hairy polyp is presented that occurred in a male neonate with severe intermittent respiratory obstruction. The precise nosology of this unusual ...
Hootnick D R - - 1990
Amputation after clubfoot surgery is a rare and catastrophic complication. This case report involves an amputation necessitated by postoperative necrosis on the medial side of the foot. To our knowledge, only one brief published report of necrosis following clubfoot surgery exists in the literature, and that report contains little clinical ...
Murphy K J - - 1990
The Walker-Warburg syndrome (WWS) is a fatal dysmorphic disorder of unknown etiology, but strongly suggests an autosomal recessive mode of inheritance. It is characterized by severe congenital oculo-cerebral malformations (lissencephaly, congenital hydrocephalus, and ocular lesions). The authors report a case of WWS that occurred in a consanguineous union, with a ...
Berenter R - - 1990
The syndrome caused by congenital absence of the fibula has a number of pathologic abnormalities frequently associated with it, which are illustrated by the case reported. Postsurgical therapy on the involved extremity should take into account the patient's lack of joint motion within the tarsal region. With this in mind, ...
Wood V E - - 1990
The windblown hand deformity, also known as congenital ulnar drift of the fingers and congenital contractures of the digits is reported infrequently in the literature. Although the syndrome is well described, authors' use of different terms is confusing. In more than 20 years of practice, we have observed 11 patients ...
Bonomi A - - 1990
The authors report a case of "harlequin fetus" which was brought to their attention. The report was justified not only by the rarity of the disease, but above all because, after having examined the literature on the topic, this appears to be the third case treated with etretinate. The case ...
Cohen D A - - 1990
Reports of congenital syphilis in 1987 were reviewed to determine how new national guidelines for defining congenital syphilis would influence reported rates in Los Angeles County. After reviewing all reported reactive serologic tests for syphilis, we found 166 additional cases, resulting in a 426 percent increase in the 1987 reported ...
Abdullah A M - - 1990
Congenital chloride diarrhoea (CCD) usually presents with abdominal distension, visible peristalsis and watery stools from birth that show chloride loss of more than 90 mmol/l. It may mimic low intestinal obstruction on antenatal ultrasound scanning after 30 weeks' gestation. This condition has been reported mainly from Finland. We report a ...
Bredenkamp J K - - 1990
Sternocleidomastoid muscle fibrosis has been recognized for centuries, but its pathogenesis and treatment remains controversial. Pseudotumor of infancy is a firm fibrous mass in the sternocleidomastoid muscle appearing at 2 to 3 weeks of age. Congenital muscular torticollis is less common and appears later in life. Pseudotumor and congenital muscular ...
Zook E G - - 1990
The most common cause of nail bed deformity is trauma, but other causes are infection, tumor, ischemia, or congenital anomalies. This article includes discussions of nonadherence, split nail, reconstruction of the eponychium, crooked and hooked nail, bony irregularity, pachyonychia, ischemic deformities, and absence of the nail. New problems are encountered ...
Nomura S - - 1990
An open renal biopsy specimen from a twelve-year-old boy with a congenital solitary kidney was studied with light, electron, and fluorescent microscopy. Focal glomerular sclerotic lesions were disclosed by these microscopic examinations. Morphometric analysis revealed statistically significant hypertrophy of the glomeruli and significant reduction in the number of glomeruli when ...
Moore C C - - 1989
Two additional cases of congenital gastric outlet obstruction are presented. A comprehensive review of the literature was undertaken and as a result a classification for congenital gastric outlet obstruction is suggested. The management of the cases reported in the literature has also been reviewed together with the genetics of pyloric ...
Petrone M E - - 1989
Between 1984 and 1987, the number of reported cases of congenital syphilis in New Jersey tripled. Findings indicate an increase in early syphilis among females of childbearing age living in areas of high syphilis morbidity, reflecting, possibly, lifestyle changes within populations already at risk for the disease. Future studies and ...
Oliveira C A - - 1989
Congenital malformations of the external and middle ear relatively frequent anomalies (one to five cases in 20,000 live births). They are part of genetic syndromes such as Treacher Collins and Goldenhar's syndromes, but most cases are isolated and sporadic. A few cases of familial incidence of isolated external and middle ...
Zeiter J H - - 1989
Arthrogryposis multiplex congenita is a birth defect characterized by multiple joint deformities and sometimes associated with various other congenital anomalies. There have been several reported cases of miscellaneous ocular abnormalities in conjunction with this syndrome. We report the first case of congenital ophthalmoplegia as well as juvenile onset glaucoma associated ...
Bell D F - - 1989
Congenital forearm pseudarthrosis is a rare clinical entity; only 27 cases have been reported in the English literature. The radius and ulna are affected with nearly equal frequency. Involvement of both bones is extremely rare. Most cases have been associated with neurofibromatosis, which appears to affect adversely the ability to ...
Bonatz E - - 1989
The case history of a young man with bilteral congenital hypoplastic thumbs and early degenerative arthritis involving the base of the thumb and scaphotrapeziotrapezoid joints is reported. To our knowledge this association has not been previously made. Limited intercarpal arthrodesis and/or trapezium arthroplasty may be required at a relatively early ...
Mirsky H A - - 1989
Congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency in men can cause profound oligospermia. The mechanism for this condition is overproduction of adrenal androgens, which in turn inhibit gonadotropin secretion. Men with a mild subclinical form of congenital adrenal hyperplasia may remain undiagnosed until adulthood. We report on a man who ...
Sarajlić M - - 1989
To date, about 100 cases of a blind-ending branch of a bifid ureter have been reported. We present 13 clinically, radiologically and histologically evaluated cases of congenital ureteric diverticulum. We believe this anomaly is not as rare as hitherto believed and suggest the term congenital ureteric diverticulum for a blind-ending ...
Dekker A - - 1989
The case of a 61-year-old woman with a surgically resected solitary cholangiocarcinoma of the liver is reported, where many discrete multiple bile duct hamartoma (MBDH) were also seen. The latter is a congenital lesion of the liver that potentially may be confused with widespread metastatic disease. The relationship between cholangiocarcinoma ...
Gerberding K M - - 1989
A term newborn with Candida albicans infection of the lungs and blood is described. Although no maternal risk factors were identified, this patient's rapid clinical deterioration and postmortem findings suggest congenital infection. Related cases in the literature are reviewed. This case suggests that a diagnosis of fungal pneumonia should be ...
Bonk J H - - 1989
The diagnosis of a congenital talonavicular coalition is one that often may be little more than an incidental radiographic finding. However, the acute onset of vague midfoot symptomatology secondary to a minor traumatic event may reveal this rarely reported condition on further clinical examination. The authors present a description of ...
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