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Kouvelas N - - 1989
Congenital insensitivity to pain with anhidrosis is a rare disorder. A case of a male patient presenting with loss of pain and temperature sensation, lack of sweat, and mild mental retardation is described. Differential diagnosis with similar pathological conditions is presented. Although 15 similar cases have been reported in the ...
Tommasi A F - - 1989
Crossed congenital hemifacial hyperplasia is a rare condition that produces facial asymmetry and overgrowth of the opposite lower extremity. A case involving the left side of the head and the right foot is presented. Etiologic theories are discussed. The involvement of crossed structures suggests the possibility that the cause may ...
Lockie P - - 1989
We report a further four cases of spontaneously resolved primary congenital glaucoma, including one case seen both prior and subsequent to the resolution. This condition is detected usually in eyes with megalocornea, which are later found to have breaks in Descemets membrane. Two other patients also had this diagnosis made, ...
De Paillette L - - 1989
A 5-year old girl with Ullrich's atonic-sclerotic muscular dystrophy is reported and 16 previously reported cases are reviewed. The clinical features, in particular proximal contractures, distal hyperextensibility, mild dysmorphism and hyperhidrosis, allow recognition of this subtype of congenital muscular dystrophy, which has no specific pathological characteristics. There is evidence in ...
Vesely T - - 1989
An anatomic and embryologic study of congenital absence of the pericardium and the relationship of the ligamentum arteriosum to this defect was carried out by the authors. A case report is presented to clinically correlate the anatomic and radiologic findings in this anomaly. The authors propose that visualization of the ...
D'Esposito M - - 1989
The results are reported of our operative experience with 22 cases of external congenital ophthalmoplegia. The familiality, the muscular enzymes and isoenzymes, and often the skeletal electromyography have been studied, with the latter three being significantly altered in most cases. The main indication for surgery is the need to improve ...
Sener R N - - 1989
The familial type of congenital split-hand associated with aplasia of the tibia is a very rare anomaly. Moreover, bilateral involvement of the hands and legs of the individual case is much rarer. In this paper, a case showing bilateral split-hand associated with bilateral tibial aplasia is presented, being the fourth ...
Lubis B - - 1989
A study on the incidence of congenital malformation had been assessed among 15,185 newborns delivered in the Neonatal Unit, Dr. Pirngadi Hospital Medan during 1981-1984. Still-births were not included in this study. Out of these 15,185 newborns there were 77 cases (0.51%) of congenital malformation. The four leading malformations were ...
Troost B T - - 1989
A review of different types of nystagmus is presented. The review includes characteristic features of the history and findings on examination of nystagmus which allow classification. Types of nystagmus reviewed include congenital, acquired pendular, acquired jerk nystagmus, special nystagmus types such as periodic alternating and downbeat, and the related ocular ...
Kalter D C - - 1988
Two cases are presented of congenital linear and whorled hypermelanosis. Hyperpigmented macules in streaky configurations along Blaschko's lines appeared gradually after birth. Histologic examination revealed prominent epidermal melanocytes and irregular basal layer hyperpigmentation with normal melanosomes. This condition must be differentiated from incontinentia pigmenti, early systematized epidermal nevus, extensive hypomelanosis ...
Lister G G Division of Plastic Surgery, University of Utah, Salt Lake - - 1988
Twelve second-toe transfers have been performed to substitute for thumbs congenitally deficient through constriction ring syndrome, symbrachydactyly, and true transverse arrest. The children were on average 3 years of age, and the youngest was undertaken at 10 months. Anatomic variations were the rule in the six cases of transverse absence ...
Shariff S - - 1988
A cyst in the left lower lobe of the lung was removed from a 15-month-old girl and showed evidence suggesting a preexistent congenital cystic adenomatoid malformation; in addition a rhabdomyosarcoma was identified. Primitive mesenchyme and mesenchymal elements also were seen. The origin of the rhabdomyosarcoma is discussed. The findings in ...
Percy E C - - 1988
Tarsal coalition refers to the condition that exists when there is absent or restricted movement between two or more of the bones of the hindfoot. The usual cause of the restricted movement is a congenital abnormality with a fibrous (syndesmosis), cartilagenous (synchondrosis), or bony (synostosis) union between the adjoining involved ...
Abdel-Hafiz A A - - 1988
Most duodenal diverticula are acquired, extraluminal, and false, but the congenital variety is rare, whether it is intraluminal or extraluminal. We present two cases of extraluminal congenital duodenal diverticula and one of the intraluminal type, and we also review the literature. The clinical presentation involves rather nonspecific abdominal symptoms, and ...
Rossillon D - - 1988
The authors report 19 cases of congenital ring-constriction syndrome of the limbs. Complications arose in eight of the pregnancies. The limb anomalies were always congenital ring-constrictions together with distal amputation. Moreover, 13 patients also had syndactyly and 15 associated anomalies were registered in 9 patients--8 of the limbs, 3 craniofacial ...
Miller R - - 1988
A rare case of primary congenital ectropion of all 4 eyelids in a child with Down's syndrome is reported to emphasise the problems of surgical management and to distinguish the condition from congenital eversion of the eyelids. Congenital ectropion is associated with other eyelid abnormalities and usually requires surgical measures ...
Keunen J E - - 1988
Since the non-invasive technque of retinal densitometry became available in 1955, rhodopsin kinetics could be studied in vivo. It was obvious that with this new tool investigators focussed attention on the aetiology of night blindness in various diseases. A brief review about the clinical developments in the past two decades ...
Young M C - - 1988
Although a number of cases of congenital pseudarthrosis of the clavicle have been described in the literature, they provide little direction for the treatment of this condition when it is associated with thoracic outlet syndrome. The authors describe their experience with such a case in a 20-year-old woman. Symptoms of ...
Burnett J W - - 1988
Ulerythema ophryogenes, a rare dermatologic disorder characterized by inflammatory keratotic facial papules that may result in scars, atrophy, and alopecia, can occur in association with other congenital anomalies. A case reported here was accompanied by an unusual facies, developmental delay, central nervous system abnormalities, dental anomalies, and undescended testes. There ...
Sato S E - - 1988
Two cases of cutis marmorata telangiectatica congenita are described in association with nevus flammeus and congenital glaucoma. Approximately 65 cases have been reported and the association with nevus flammeus and congenital glaucoma has only been reported in one of those cases. Unlike the glaucoma associated with nevus flammeus of Sturge-Weber, ...
Zalzal G H - - 1987
Congenital aural atresia occurs approximately once in every 20,000 live births, although the incidence of otitis media in aural atretic children should not differ from the rest of the population, detection is difficult. Unless severe, the infection usually goes unnoticed, especially with the use of antibiotics. A two-year-old male with ...
Hawass N D - - 1987
A detailed radiologic and anatomic study of a 20-week-old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, ...
Litman R S - - 1987
Bilateral congenital cholesteatoma in children is unusual, and our experience with a case arising in a 6-year-old boy is described. Various theories of the origin of this disease are briefly reviewed. The possibility that this entity may be more common than previously realized, and its relationship to eustachian tube obstruction ...
Perlman M D - - 1987
Clubfoot, or talipes equinovarus, was introduced into the medical literature by Hippocrates in 400 B.C. The clubfoot deformity is a pathologic condition consisting of inversion and adduction of the forefoot, equinus of the ankle, and inversion of the heel. The condition has also been described as a congenital subluxation of ...
Burge P - - 1987
A case of bilateral congenital pseudarthrosis of the olecranon is described. The clinical features, radiological appearance and prognosis are distinct from the type of congenital pseudarthrosis of the forearm reported previously. The lesion appeared to be a localised failure of ossification within the proximal ulnar metaphysis. Excision, stabilisation and bone ...
Vintzileos A M - - 1987
A case of congenital midline porencephaly, including the prenatal sonographic findings, is presented. A review of the literature showed that six cases of congenital midline porencephaly have been reported, though none had sonographic evaluation in the prepartum period. The prenatal sonographic diagnosis of this rare disorder is discussed along with ...
Binder H - - 1987
A retrospective review of 277 patients with congenital muscular torticollis seen between 1970 and 1982 was conducted. In 85 cases this was supplemented by questionnaires and recent photographs, permitting a two- to 13-year follow-up. The first visit for 81.6% of patients was before six months of age. All were enrolled ...
Fanning J - - 1987
Double vulva is an extremely rare congenital malformation; there are only 17 previously reported cases in the world literature. The syndrome usually consists of complete or partial duplication of the vulva, vagina, uterus, urethra, bladder and colon, with normal ovaries and kidneys and associated congenital malformations, especially of the lumbar ...
Merlini L - - 1987
An extremely unusual case of central core disease combined with a congenital spine deformity is described. The congenital myopathy was non-progressive, but the scoliotic curve worsened markedly. This case was characterised also by the type of squatting ambulation the child used until the age of 12, when the limb contractures ...
Rollnick B R - - 1987
Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature. The study population was divided into five subgroups based on the presence of combinations of ...
Menardi G - - 1987
8 cases of congenital colonic atresias treated between 1968 and 1985 are presented. Questions regarding the aetiology of this rather rare anomaly are discussed. The interference with the mesenteric blood supply often as a result of intrauterine abdominal accidents seems to be a plausible explanation for most cases. We saw ...
Wolfley D - - 1987
This paper presents a brief review of the literature regarding congenital distichiasis. The literature is confusing regarding the term distichiasis. Distichiasis should be utilized to describe congenital partial or complete accessory rows of eyelashes which exit from the posterior lid margin behind the meibomian gland orifices. The term acquired trichiasis ...
Lusskin R - - 1987
The use of dynamic adhesive strapping to correct congenital clubfoot in the immediate neonatal period is an effective method of treatment. The technique is described in detail, the steps are illustrated, and precautions and limitations are given. This type of treatment should shorten the amount of time required to correct ...
Zábek M - - 1987
The author presents three cases of congenital parietal bone defects in two generations of one family. Two of them present paired, symmetrically located perforations of the parietal bones and case No. 3 presents a single, 6 X 7 cm defect of the parietal bones, located in the midline. In the ...
Martinelli P - - 1987
A case of a mediterranean boy with congenital muscular dystrophy (CMD) and central nervous system (CNS) involvement with mild intellectual impairment and seizures is reported. Muscular dystrophy involved both skeletal and mimic muscles, and histological findings were consistent with a congenital dystrophy. EEG recordings showed generalized and localized paroxysmal activities. ...
French S M - - 1987
Congenital bowing of the tibia and fibula is a serious orthopedic condition rarely encountered by a podiatrist. However, with the increased number of hospital based podiatrists, it becomes imperative that a thorough knowledge of this disorder and the possible treatments be well understood. Deformities of this type are not very ...
Yasuma F - - 1987
Congenital central alveolar hypoventilation (C-CAH), so called Ondine's curse, is known to be quite a rare neuropathology that has been reported in only 23 cases to date. C-CAH was diagnosed in a 2-year-5-month-old infant. In the treatment of C-CAH, we implanted a right unilateral diaphragm pacemaker in the infant and ...
Rosenberg T D - - 1987
The symptomatic discoid lateral meniscus is a well-known congenital anomaly that is of three different types: complete, incomplete, and Wrisberg-ligament type. The Wrisberg-ligament type has no meniscotibial attachment posteriorly, and in the past has been treated by total (open or arthroscopic) meniscectomy. In this article, we review the literature and ...
Nasr A M - - 1986
We studied a rare case of congenital myofibromatosis of the orbit as part of a generalized multicentric disease in a 5-month-old boy. The ultrasonographic and computed tomographic findings were those of a low-reflective, firm, vascularized, lesion with heterogeneous internal structure. The histopathologic findings showed vascular channels with large polygonal cells ...
Pearn J - - 1986
Macrodactyly simplex congenita (MSC) is a rare congenital anomaly comprising some 10% of cases of isolated congenital macrodactyly. The essential elements in MSC are mentioned and a differential diagnosis from other forms of enlarged digits is given, in the light of the natural history of the condition. The distinction is ...
Edström L - - 1986
Four cases of congenital myopathy, two children and two adults, are described whose light-microscopical and ultrastructural findings are consistent with a multicore myopathy. In all cases a hereditary etiology to the disorders is obvious presumably by an autosomal recessive trait. Fibres with central nuclei and multiple minicores was a prominent ...
Holtzman C - - 1986
We conducted a structured telephone survey of state public health laboratory directors of neonatal screening programs to determine the extent of the problem of missed cases of phenylketonuria (PKU) and congenital hypothyroidism. A total of 76 missed cases were reported--43 PKU and 33 congenital hypothyroidism. We looked at the following ...
Komolafe F - - 1986
We describe a lethal variety of congenital short-limbed dwarfism (Thanatophoric dwarfism) characterized by marked shortening of the extremities, macrocephaly with associated hydrocephalus and a narrow thorax, delivered by a 25-year-old woman in our hospital. Experience with this form of abnormality is rare and even an isolated case report will heighten ...
Hosey T - - 1986
This paper will review the recent literature on congenital convex pes valgus. Many articles have been written on the subject, and there is no agreement as to the correct treatment of this difficult deformity. This manuscript will describe the deformity and suggest that combining various forms of previous treatments may ...
Nwoku A L - - 1986
A rare case of true congenital ankylosis of the mandible to the maxilla, noticed at birth without any associated deformity, is presented. The child was initially kept alive by nasogastric tube feeding and proper oral feeding was established later by bilateral coronoidectomy to release the ankylosis. The pathogenesis of congenital ...
Masada K - - 1986
A total of 523 Japanese patients with terminal limb congenital malformations were reviewed for the characteristic features, and especially for type correlation between hand and foot anomalies. There were 281 cases of hand involvement alone, 149 cases of foot involvement alone, and 93 cases of combined hand and foot involvement. ...
King K - - 1986
Congenital hepatic fibrosis has been associated with a number of visceral abnormalities, but only rarely with cerebral aneurysms. We report a case of a 32-year-old woman with congenital hepatic fibrosis and a subarachnoid hemorrhage secondary to a ruptured cerebral aneurysm. A review of the literature reveals only two previous reports ...
Simstein N L - - 1986
A review with a classification of congenital defects involving the stomach is presented. Owing to the fact that in certain lesions there are so few case reports available for study, the etiology and true nature of these defects remains unknown. It is incumbent upon the surgical community to continue to ...
Copel J A - - 1986
Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine ...
Appel R A - - 1986
Megalourethra is a rare congenital malformation characterized by dilatation of the penile urethra. We review 6 previously unreported cases and 35 cases reported in the literature. The distinction between scaphoid and fusiform megalourethra seems arbitrary, and the disorder is better viewed as a spectrum rather than as 2 distinct entities. ...
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