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Query: UMLS:C0033377 (prolapse)
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The case report of a 20 year old woman illustrates the course of blepharochalasis. This disease was defined as an entity by E. Fuchs in 1896. It is characterized by relapsong edematous tumefaction and increasing relaxation of the eye lids with atrophy of the skin, blepharophimosis and emergence of a pseudoepicanthus. Folding of the oral mucosa in the upper lip, the so-called double lip, euthyroid struma, and, in later stages, orbital fat hernia and prolapse of the lacrimal gland, are further facultative symptoms. Partially, late stages of the disease had been described as Ascher- or Laffer-Ascher-Syndrome. This syndrome is no separate entity.
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PMID:[Blepharoachalasis (Fuchs) and the Laffer-Ascher syndrome]. 56 95

Since 1986 we used the permanent expandable implant (PEI) as the first choice of prosthesis in breast surgery. The possibilities offered by multiple over-expansions and deflations have been explored: 224 PEI were utilized in 162 patients for aesthetic (38 with bilateral hypoplasia), corrective (20 with asymmetry, tubular breasts or Poland's Syndrome) and reconstructive breast surgery (104 patients for immediate and delayed reconstruction following radical, modified radical, partial and subcutaneous mastectomy). All implants were positioned submuscularly; a latissimus dorsi flap was transposed when pectoralis major was absent or damaged. Either the Becker or the Gibney implant was used. All PEI were immediately or progressively overinflated by 25-80% and then deflated to the planned volume. Twenty-two patients developing capsular contracture were treated by overinflations and deflations with subjective and objective improvement. Many of augmentation mammaplasty patients refused implant deflation to the planned preoperative volume. The over-expansion/deflation process proved to be effective in obtaining ptosis, in maintaining permanent volume symmetry and in keeping the base of tubular breast unfolded.
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PMID:[Permanent expanders in esthetic, corrective and reconstructive surgery of the breast]. 146 18

We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.
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PMID:[Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome]. 178 62

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
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PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

Five to eight years later, we obtained an answer in 66.3% of 556 patients who had a sterilization between January 1978 and end of December 1981, in order to find any complication forming the so called Post-sterilization Syndrome. We traced back 80.6% of 62 patients who showed a genital pathology at the time of their surgery. We also could obtain an answer in 64.6% of 494 patients who had no apparent genital pathology at the time of their sterilization. We found that 12 patients of the first and 25 patients of the second group (10%) had suffered a major gynecological surgery since their sterilization. But in studying their records, we found that all their surgery was surgically indicated like for fibroids, prolapse, cervical cancer, etc. Three patients of the first and 16 patients of the second group (5%) showed bleeding problems which necessitated a D & C. In all, considering the age of the patients, there was no relationship between the sterilization and the rate of complications.
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PMID:[Post-ligation syndrome: a follow-up of 556 cases, 5 to 8 years after tubal sterilization]. 275 6

A 21 year old patient was operated for bilateral ptosis and external ophthalmoplegia at 13 years of age. At this time there were no signs of retinitis pigmentosa or atrioventricular block, features of the Kearns and Sayre Syndrome (1958) which were detected five years later. His bundle recording showed an intrahisian block (1 degree proximal and a complete distal block) with a trifascicular block, the latter persisting alone during a brief return to sinus rhythm. This is one of the rare cases of the Kearns and Sayre Syndrome with documented His bundle recordings and the only reported case with intrahisian block. The patient also suffered from bilateral neural deafness. The patient's condition remains stable after implantation of an isotopic cardiac pacemaker and he now leads a normal life. A review of 52 previously published cases shows that this rare condition appears to be caused by a mitochondrial abnormality, which, for an unknown reason, affects only the neuromuscular and cardiac conduction systems. The prognosis is poor when swallowing and respiration are affected, but this does not occur in all cases. As cardiac conduction abnormalities are the other life-threatening complication, cardiac pacing has greatly improved the prognosis of these patients.
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PMID:[Auriculo-ventricular block in the Kearns-Sayre syndrome. Apropos of a case]. 640 30

Blepharophimosis, ptosis and epicanthus inversus is a rare well-documented autosomal dominant disorder. Described here is a family with typical features of this syndrome in eleven cases in five generations. Syndrome is discussed and blepharophimosis underlined. Blepharophimosis is also a minor defect in the contest of complex malformation syndromes having different aetiology (mendelian inheritance, chromosomal abnormality, toxic agents). The Authors believe that blepharophimosis, for its clinical evidence, is an important guide sign.
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PMID:[Blepharophimosis, ptosis and epicanthus inversus]. 654 30

The Marcus Gunn Syndrome is discussed. It is postulated that an atypical oculocardiac reflex is easily initiated in these patients so that precautions must be taken for its prevention and early detection. Marcus Gunn first described the syndrome in 1883. His patient had a congenital ptosis of the left upper eyelid. Paradoxical lid retraction was evoked by movement of the jaw. Consequently the syndrome also became known as the 'jaw-winking' syndrome. Other varieties of the Marcus Gunn syndrome have also been described. The pathogenesis of this syndrome seems to be the presence of abnormal central connexions between the trigeminal and oculomotor cranial nerves which supply the external pterygoid and the levator palpebrae superioris muscles. The importance of recognition of the oculocardiac reflex in patients undergoing eye surgery under anesthesia is well known to anaesthetists and to eye surgeons. The occurrence of this reflex in patients undergoing surgery on the eyelids has been reported previously. This paper describes a patient with the Marcus Gunn Syndrome who underwent three operations on the left upper eyelid and who exhibited unusual manifestations of the oculocardiac reflex.
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PMID:Marcus Gunn Syndrome associated with an unusual oculo-cardiac reflex. 739 12

In order to determine the correlation between echocardiography (ECHO) and phonocardiography (PHONO) in the evaluation of the Mitral Prolapse Syndrome (PM), 87 subjects with echo or phono criteria of PM were studied using both techniques. The phonocardiographic criteria used for PM diagnosis were the presence of a telesystolic click and/or a telesystolic murmur. The echocardiographic criteria were a telesystolic or holosystolic posterior movement of a mitral leaflet continuously seen through systole or of both mitral leaflets seen in part of systole. In the 63 patients with ECHO indicative of PM, the PHONO was positive in 55 cases (87%). Methoxamin administration, in 5 cases whose basal PHONO was normal, allowed the observation of 3 telesystolic murmurs and 2 clicks. The drug also diminished the number of clicks and increased tfhe telesystolic murmurs. In 79 subjects with PHONO indicative of PM, the ECHO was positive in 57 cases (72%): this technique was of particular value in patients with olosystolic murmur; valuable also to evaluate the diastolic diameter of the left ventricle and the left atrium and other signs having a possible use for a more accurate physiopatologic definition of the PM syndrome.
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PMID:[Comparative evaluation of phonocardiogram and echocardiogram in mitral valve prolapse diagnosis (author's transl)]. 746 7

Epidemiological studies in the United States indicate that 5% of the population or nearly 7 million people have Mitral Valve Prolapse. This incidence has also been confirmed by British physicians. Approximately half of these persons seek medical care for treatment of symptoms. Persons with symptoms are often said to have "Mitral Valve Prolapse Syndrome." The purpose of this study was to describe experiences and self-care needs of persons diagnosed with Mitral Valve Prolapse Syndrome (MVPS). In Phase I of the study, medical records of 124 subjects were reviewed to identify the medical experience and typical symptoms associated with MVPS. In Phase II, 20 subjects with typical symptoms were interviewed using a semi-structured questionnaire based on health deviation self-care requisites developed by Orem. Results of this pilot study indicate that interviewed subjects with MVPS frequently had unresolved health concerns and were seeking help. Nursing assistance may therefore be needed to help such clients understand this health deviation, to make decisions regarding appropriate actions, and to accomplish self-care actions.
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PMID:Perspectives of the person with mitral valve prolapse syndrome: a study of self-care needs derived from a health deviation. 837 86


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