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Kuz J E - - 1997
Congenital absence of the scaphoid without associated thumb or radial hypoplasia is a rare condition. This report is the third case presented in the literature of this condition. The case presented is of a patient who presented initially with wrist pain. Radiographs revealed a congenitally absent scaphoid and examination revealed ...
Hernanz-Schulman M - - 1997
Retroperitoneal bronchopulmonary sequestrations are rare congenital lesions that have been increasingly reported as incidental findings in utero. We present our case material of congenital retroperitoneal sequestration, discuss the reported imaging and histopathologic characteristics of this entity, and provide an approach to subsequent clinical and surgical management. Our data suggest that ...
Harel L - - 1997
Lymphedema praecox, a type of primary lymphedema, becomes evident at puberty, occurs mostly in girls, and is usually confined to the lower extremities. Arms tend to be involved in either congenital or secondary lymphedema. We describe a unique localization in an 11-year-old girl who had primary lymphedema of the right ...
Luchs J I - - 1997
Congenital entropion is a rare eyelid anomaly that can cause chronic corneal erosions or ulceration. The diagnosis may be easily overlooked by both the pediatrician and the ophthalmologist, particularly when the lids are tightly closed in the crying child. We present three cases of congenital entropion associated with corneal ulceration. ...
Villas C - - 1997
Congenital pedicle abnormalities are rare. Unilateral aplastic and hypoplastic lumbar pedicles have been reported, but these were usually discovered incidentally and did not need surgical treatment. We present a case of absence of both pedicles and the neural arch of L2, with associated kyphoscoliosis with neurological involvement, that needed a ...
Iida N - - 1997
Congenital ectopic nails are a rare anomaly, but we observed a case of a 43-year-old woman with ectopic nails at the tips of her bilateral little fingers. On X-ray, the distal phalanx of the each little finger appeared depressed. We surgically removed the ectopic nails. One year and 6 months ...
Johnson B L - - 1997
BACKGROUND: Congenital aphakia is a rare condition that has been classified as primary when no lens induction of the surface ectoderm occurs and secondary when lens development takes place but later is resorbed or expelled in utero. METHODS: The authors report the clinical and pathologic findings in three infants with ...
Stoll C - - 1996
Two siblings (a boy and a girl) had congenital renal tubular acidosis (RTA) with nephrocalcinosis. Hearing loss due to nerve deafness was diagnosed at 13 1/2 and 9 years of age, respectively. The parents, who are second cousins, are healthy. They have another boy who is unaffected. This is in ...
Koppel R - - 1996
We describe an infant with congenital vocal cord paralysis born to consanguineous parents. While autosomal dominant and X-linked inheritance have been previously reported in this condition, we conclude that the degree of parental consanguinity in this case strongly suggests autosomal recessive inheritance. Although we cannot exclude X-linked inheritance, evidence from ...
Peterson-Sweeney K L - - 1996
Imperforate hymen is a rare occurrence in younger women resulting in hydrocolpos and hydrometrocolpos. Though imperforate hymen may be diagnosed in infancy, females ages 9-15 years most often present with the problem. Imperforate hymen usually is a congenital anomaly, but has been reported as a result of sexual abuse. This ...
Litman R S - - 1996
Bilateral congenital cholesteatomas are rare. We present the 8th and 9th case of this entity in the literature. One of these cases is especially unusual. In that patient an ear that had been documented as normal, both radiographically and clinically, was found to have a large cholesteatoma 18 months after ...
Herva R - - 1996
Primary intracranial rhabdomyosarcoma is extremely rare. Here, a case that is most consistent with a botryoid rhabdomyosarcoma is described in a 4.5-year-old boy. The case is unique because it was preceded by a congenital Dandy-Walker malformation, choroid plexus hyperplasia and an enormous oversecretion of cerebrospinal fluid during infancy.
Ajlouni K M - - 1996
Classic congenital 11-beta-hydroxylase deficiency is a relatively uncommon cause of congenital adrenal hyperplasia and is characterized by virilization and often hypertension. The association of skeletal abnormalities (short metatarsal bone) and pulmonary stenosis in a patient with 11-beta-hydroxylase has been reported by our group. In this report, three new patients with ...
Piqué E - - 1996
We report on three patients with black or white comedones arranged along the nasal groove in the distal third of the nose between the alar and triangular cartilages. This peculiar disorder is probably more common than would appear from the small number of cases so far reported in the literature.
Doull I J - - 1996
Although decreased bronchial cartilage is found in 50% of cases of congenital lobar emphysema (CLE), it can only be surmised that this defect produces a ball valve effect with consequent overinflation. We describe the flexible bronchoscopic features of CLE in a 3-year-old child. The observed airway patency during inspiration, and ...
Kelly I P IP Department of Orthopaedic Surgery, Children's Hospital, Dublin, - - 1996
Congenital varus deformity of the first metatarsal can be secondary to the abnormal insertion of abductor hallucis, a space-occupying lesion of the first web space, or hypoplasia of the metatarsal. We report a unique case where all three factors were present in one foot. This was combined with talipes equinovarus, ...
Gobeil F - - 1996
Congenital complete atrioventricular block is quite rare, with usually a benign clinical evolution. However, because the first manifestation can be sudden death, it is important to evaluate patients and to establish clear prognostic criteria. A case of complete congenital atrioventricular block in a 38-year-old woman is presented to illustrate these ...
Nishizaki K - - 1996
We report a case of bilateral congenital cholesteatoma in a 6-year-old boy. Cholesteatoma was present in both ears around the tympanic isthmus (the only open passage from the tympanic cavity to the attic), extending to behind the horizontal portion of the facial nerve. This patient underwent a total of three ...
Muraoka M - - 1996
Congenital ectopic fingernails are extremely rare and only 22 cases were found in domestic and foreign literature during our investigation. In the 22 ectopic fingernail cases collected, small ectopic fingernails were found along side the normal fingernail (dorsal or palm side), in most cases, and extremely rare double nails, which ...
Thomsen M - - 1996
Eleven articles reporting 39 patients with the combination of progressive scoliosis and familial congenital gaze palsy have now been published. This disorder appears to be caused by a malfunction of the normal equilibrial control mechanism related to the brainstem or the central nervous system. The scoliosis progresses when the children ...
Day M R - - 1996
The authors present a case of congenital, bilateral, symmetrical, and purely transverse plane, abductus deformity of the second digit. The deformity appears to be familial in nature, although other possible etiologies remain including premature closure of the distal-lateral epiphysis of the middle phalanx, or a C-shaped epiphysis of the middle ...
Noonan K J - - 1996
In conclusion, monolateral external fixation can be effectively utilized in the management of limb length discrepancy and angular deformity. This manuscript outlines the pertinent theory, application and problems important in these cases. When faced with specific congenital conditions the surgeon is encouraged to reference relevant literature that is more focused ...
Wong K S - - 1995
We experienced six cases of congenital tracheal stenosis during a 3 years' period from October 1991 to September 1994 in Chang Gung Children's Hospital, Taiwan. The presenting symptoms of congenital tracheal stenosis varied from acute obstructive upper respiratory episodes in young childhood, stridor and wheezing since birth, recurrent bronchiolitis, difficult ...
Tan T H - - 1995
Ureteric diverticula is classified as either congenital or acquired. The acquired form is further divided into false or ureter pseudo-diverticula. Of the various types, ureteric pseudo-diverticula have been associated with uro-epithelial tumour more often than expected. This report of a Chinese patient with ureteric pseudo-diverticula presenting with macroscopic haematuria is ...
Singh V P - - 1995
Congenital/Infantile Fibrosarcomas are relatively rare soft tissue tumours. Only 238 cases have been reported till 1986 in the world literature of which 60 were truly congenital. A distinction must be made between them and their adult counterparts because of differences in their clinical behaviour. The authors report three cases and ...
Martinot-Duquennoy V - - 1995
A case of congenital annular constricting band syndrome with an open pseudarthrosis of the tibia and fibula is reported. Ischemia, neurological defect and major lymphoedema were present. The child had an emergency treatment combining an external fixator and a one-stage resection of the constricting band. Bone union was obtained within ...
Watts M T - - 1995
Congenital ectropion of the upper lid is a rare condition that, if treated early, can be managed without recourse to surgery. We report a case in which an initial attempt at treatment with a pressure bandage failed, leading to a rapid worsening of the condition. A subsequent attempt at repositioning ...
Cruz A A - - 1995
The so-called ablepharon macrostomia syndrome is an extremely rate congenital condition that includes abnormal ears, an enlarged, fishlike mouth, absence of lanugo, redundant skin, and vertical shortening of all eyelids. Only four cases have been described so far. In these cases the nature of the eyelid anomalies has not been ...
Thompson B L - - 1995
BACKGROUND: The reported incidence of congenital syphilis in the United States rose dramatically during the 1980s. Although lack of prenatal care has been associated with congenital syphilis, little has been published regarding missed opportunities for prenatal intervention. GOAL OF THIS STUDY: To determine whether congenital syphilis increases in Maryland between ...
Smith J J Department of Paediatrics and Child Health, Tygerberg Hospital, W. - - 1995
Congenital syphilis remains a significant clinical problem, especially in developing countries. We report a fatal case of congenital syphilis complicated by persistent pulmonary hypertension and hypoxic ischaemic encephalopathy. To describe the association of congenital syphilis with persistent pulmonary hypertension of the newborn (PPHN). Case report of a single patient. Fatal ...
Mitchell D - - 1995
A 30-week gestational age male fetus was found to have a congenital neoplasm involving the posterior cranial fossa, identified by fetal ultrasound examination in utero. Histological and immunohistochemical examination confirmed a diagnosis of primitive neuroectodermal tumor (PNET) of the posterior fossa, also referred to as medulloblastoma. Although PNETs have been ...
Al Jurayyan N A - - 1995
Congenital adrenal hypoplasia is a rare disease which is known to cause severe salt wasting in the neonatal period. In this report, we describe three patients from two different families who were seen at King Khalid University Hospital, Riyadh, Saudi Arabia. All patients presented with classical clinical, biochemical, hormonal and ...
Alashari M - - 1995
Human true tail is a rarely reported anomaly that may have a marked psychologic impact on the patient's family and may be associated with other congenital anomalies. A true tail in a newborn girl is reported, and findings from a review of the literature are summarized. The clinical and pathologic ...
Glick S A - - 1995
Glomangiomas, or multiple glomus tumors, occur in disseminated, localized, or congenital plaquelike forms. The first two cases of congenital plaquelike glomangioma were described in 1990. We report a 9-year-old girl with a congenital, violaceous, 75-cm2 indurated plaque of the left abdomen that showed the classic histologic findings of glomangioma. In ...
Wu M H - - 1995
Congenital megalourethra is a rare genital anomaly characterized by dilatation of the penile urethra without evidence of distal obstruction. Reports of the prenatal diagnosis of this condition in the literature are limited. We present a case of congenital megalourethra with obstructive uropathy from the posterior urethra diagnosed prenatally at 18 ...
Tessema T - - 1995
A retrospective record analysis of the last six years was done to determine the pattern of congenital malformations in the paediatrics department of Gondar College of Medical Sciences Hospital, North Gondar, Ethiopia. Of a total of 7489 admissions, 191 cases of congenital malformations were found, accounting for about 2.6% of ...
de Lissovoy G - - 1995
Reported cases of congenital syphilis have increased rapidly in recent years. The purpose of this study was to estimate first-year medical care expenditures among 1990 incident cases of infants diagnosed with congenital syphilis. The authors used a synthetic estimation model to calculate expenditures for congenital syphilis as the number of ...
Dias E P - - 1995
The authors present a study of five cases of vulvar congenital papillomas and papillomatoses in stillborns and neonates dead upon birth. The studied material was collected from five necropsies. The histopathological evaluation showed hyperkeratosis, acanthosis, papillomatosis, perinuclear haloes, and nuclear abnormalities. In three of the cases, the electron microscopy identified ...
Buskens E - - 1995
Routine fetal echocardiography has been submitted as an antenatal screening test for congenital heart disease despite a wide range of efficacy reported. Hence, evaluation of the variable results of prenatal ultrasound screening programs was pursued. As the studies appeared to have a heterogeneous design, the originally reported figures have been ...
Donahue M L - - 1995
We describe an infant with a deletion of 8q21-->22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, ...
Pati H P - - 1995
Congenital abnormalities of fibrinogen are rare disorders and all the cases reported in the literature indicate that the incidence of afibrinogenaemia is much higher than hypofibrinogenaemia. Of the total of 20 cases reported from other parts of India only one was congenital hypofibrinogenaemia. In contrast, the present study showed eight ...
Soh K B - - 1995
A case is described of a nine-year-old girl with a bilateral and symmetrical congenital absence of incus. This very rare abnormality has been described only once previously in the literature. Although the pathology may be rare, treatment is straightforward and prognosis good. A discussion of middle ear embryology and a ...
Turgut M - - 1995
Congenital encephaloceles are rare lesions which are usually seen in the occipital region, in the West. They may rarely be seen in the frontal region and they have distinct diagnostic features, together with several other pathological conditions occurring in this region. In order to emphasize these points, a retrospective analysis ...
Seitz W H WH - - 1995
A series of 14 lengthenings for congenital and posttraumatic digital deficiency has been carried out in a single stage utilizing individual, half-frame design, digital lengthening devices. These devices have afforded individual digital stability without need for additional external support and have provided between 2.0 cm and 3.5 cm lengthening per ...
Jaber L - - 1995
We have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at ...
Elliott A M - - 1995
We describe a 21-week-old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorganization (Ds). Manifestations included facial asymmetry, thick eye brows, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left ...
D'Lima D D - - 1995
Reports of ring menisci are rare. This article describes a case of a congenital lateral ring meniscus and includes a literature review. The anatomy of the menisci of various vertebrates is described with an attempt to discuss the possible origin of the anomaly. Although ring menisci are asymptomatic, they are ...
Boerner M - - 1995
We report seven cases of congenital absence of the lacrimal puncta, a condition that may be either an isolated finding or associated with other developmental anomalies. General pediatric evaluation of two patients with punctal agenesis revealed no additional abnormalities; these cases were managed by probing and silicone intubation. The other ...
Motta J - - 1994
Congenital renal arteriovenous malformations (AVMs) are rare, with approximately 50 cases reported in the literature. Typically, they are small (1 to 2 cm) and the majority present with hematuria and symptoms and signs of congestive heart failure. Review of the literature revealed only 4 cases reported in pregnant patients and ...
Hoehner J C - - 1994
Congenital microgastria is an extremely uncommon dysplasic condition of the newborn stomach. With only 26 well-documented accounts of this anomaly reported in the literature, its treatment and long-term outcome have not been well elucidated. Herein, the authors report on a newborn with multiple congenital anomalies who presented with severe reflux ...
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