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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ventricular septal defect is sometimes associated with aortic regurgitation. In this report, an echocardiogram demonstrating dramatic prolapse of the noncoronary cusp into the left ventricular outflow tract and ventricular septal defect in a patient with Down's syndrome and ventricular septal defect, confirmed by angiographic studies, is presented. The echocardiogram supports the concept of anatomic lack of support of the aortic ring due to a deficient septum and hemodynamically significant flow of blood to the right ventricle through the ventricular septal defect, resulting in trauma to aortic cusps and prolapse.
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PMID:Aortic regurgitation associated with ventricular septal defect. Echocardiographic and hemodynamic observations. 14 Jul 91

An unusual presentation of acute megakaryocytic leukemia (AMKL) is reported in two young children. The first child had a 10-day history of ptosis of the right eyelid as the initial manifestation of AMKL, a clinical picture not previously described in this variant of leukemia. Computed tomographic scanning showed multiple intracranial mass lesions, and the diagnosis of AMKL was confirmed by immunophenotyping of bone marrow blasts. The second child had Down syndrome and received alkylating agents and radiation therapy for treatment of metastatic rhabdomyosarcoma of the orbit. She had AMKL as second malignancy. Both patients had acquired chromosome 21 anomalies in their leukemic blasts. The first patient, constitutionally normal, had an i(21q) in his leukemic blasts; the patient with constitutional trisomy 21 had tetrasomy 21 and additional chromosomal changes. The clinical symptoms and the results of morphologic, immunologic, and cytogenetic studies are discussed.
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PMID:Acute megakaryocytic leukemia in children. Clinical, immunologic, and cytogenetic findings in two patients. 183 41

The varying hypotonia in Down syndrome is one of its most dramatic signs. In particular, the facial expression and oral dysfunctions of these handicapped persons are uniquely characteristic. The more-or-less permanently open mouth; the prolapse of the tongue, exposed on the everted lower lip; and a lack of mastication, deglutition and speech are primarily caused by the hypotonic orofacial muscles. Breathing through the mouth leads to a dehydration of bacteria and plaque on gums and teeth, and ultimately to premature destruction of the dentition. This developmental syndrome indicates the need for early functional training of the orofacial muscles. Oral Regulation Therapy as described by Castillo-Morales was applied to seventy-four children here, with encouraging results.
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PMID:Orofacial regulation therapy in children with Down syndrome, using the methods and appliances of Castillo-Morales. 214 26

Although cardiac anomalies are well documented among children with Down's syndrome, data on the cardiac status of adults with Down's syndrome are sparse. Therefore, we performed cardiac auscultation and Doppler echocardiographic examinations in 35 asymptomatic adults with Down's syndrome. There were 25 men and ten women; their mean age (+/- SD) was 26 +/- 8 years. Only ten subjects (29%) had normal findings on examination. The most frequent abnormal findings were holosystolic mitral valve prolapse (MVP) in 20 subjects (57%) and mild aortic regurgitation in four subjects (11%). Of the 20 subjects with MVP, five had associated tricuspid valve prolapse, but none had notable mitral regurgitation. Thus, we found that the majority of asymptomatic adults with Down's syndrome had valvular heart abnormalities. The high frequency of MVP and aortic regurgitation suggests that these lesions may be specifically associated with Down's syndrome in adults.
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PMID:High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down's syndrome. 295 21

We implanted a posterior chamber intraocular lens (PC-IOL) in 30 eyes of 17 severely mentally and physically handicapped patients, i.e., 14 eyes of 9 severely mentally retarded patients, 14 eyes of 7 patients with Down's syndrome, and 2 eyes of a mitochondrial encephalomyopathy patient. All surgery was performed under general anesthesia and 3 to 10 post-operative days of hospital care were needed in an ophthalmic ward. A post-operative intensive care unit was not necessary. Severe post-operative complications occurred in 2 eyes of 2 cases. One case was complicated by an iris prolapse, and in another case traumatic wound rupture caused a prolapse of the IOL, vitreous, and retina. However, in both cases, the other eye, which also had a PC-IOL implantation, showed an uneventful post-operative course. Vision and quality of life in all patients seem to have improved. The present observations indicate that cataract surgery with PC-IOL for these patients should be positively considered in spite of difficulties in pre- and post-operative management, and when done, calibration of IOL power immediately before surgery under general anesthesia and small incision techniques are essential.
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PMID:[Intraocular lens implantation in severely mentally and physically handicapped patients]. 828 52

We performed examinations and echocardiographic studies in 35 patients with Down syndrome (aged 20 +/- 4.2 years) with no known intracardiac disease. Sixteen patients (46%) had mitral valve prolapse; two of these also had tricuspid valve prolapse. Two had aortic regurgitation. Valve regurgitation was present in 4 (17%) of 23 patients more than 18 years of age but in none of the 12 patients 18 years of age or younger. We recommend screening of adolescent and young adult patients with Down syndrome for the development of valve dysfunction, especially before dental or surgical procedures.
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PMID:Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. 849 70

The presence of epicanthal folds and lack of supratarsal folds are unique features in most Asian eyelids. Although many surgical procedures are available to eliminate epicanthal folds, scarring on the medial canthus is still an obstacle for surgeons to overcome. From January of 1989 to November of 1997, we used modified Y-V advancement procedures in 148 cases to correct epicanthal folds in Asian eyelids. Five of those cases involved congenital palpebral anomalies, including congenital entropion, congenital ptosis, and Down syndrome. There were few complications in our series. We believe that the modified Y-V advancement procedure causes minimum scarring on medial canthus in correcting Oriental epicanthal folds and congenital palpebral anomalies. This procedure can also be simultaneously combined with blepharoplasties and corrective procedures of eyelids.
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PMID:Epicanthoplasty with modified Y-V advancement procedure. 981 Sep 76

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46,XX,+21,dic(21;21) (p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as wel as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the thelong arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.
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PMID:Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21. 1181 53

Although various surgical procedures have been described to treat Hirschsprung's disease (HD), few studies have evaluated the long-term results of these children. The purpose of this study was to assess the long-term clinical outcome and bowel function of patients with HD. The hospital records of 259 consecutive patients with a confirmed histological diagnosis of HD during 1975-2003 were examined. Data was assessed for age at presentation, sex, clinical presentation, associated anomalies, level of aganglionosis, surgical procedures, complications and bowel function. Follow up was carried out by personal/telephone interviews with patients or their parents. Of the 259 patients with HD, 200 were males (77.2%) and 59 females (22.8%). Intestinal obstruction was the presenting feature in 147 patients (56.8%), intestinal perforation in 5 (1.9%), enterocolitis in 30 (11.6%) and constipation in 77 (29.7%). Thirty-nine patients (15.1%) had associated Down's syndrome. Two hundred and nine patients (80.7%) had rectosigmoid disease, 31 (12%) had long segment disease and 19 (7.3%) had total colonic aganglionosis. Forty-three patients (16.6%) had preoperative enterocolitis. Primary colostomy was performed in 160 patients and a primary pull through in 90. Seven patients had a sphincteromyectomy for ultrashort HD. Two patients died prior to treatment. Various pull through procedures were performed in these patients. Postoperative complications included: pelvic abcess in 2, rectal stricture in 10, perianal excoriation in 7, anastomotic leak in 8, intestinal obstruction in 3, wound dehiscence in 1, stomal prolapse/stenosis in 5, rectovesical fistula in 2 and enterocolitis in 56. Five patients underwent a redo pull through and 46 required a post pull through sphincterectomy. At the time of follow-up, 27 were lost to follow-up, 9 died, 18 had permanent stomas and 4 were too young to assess bowel function. Of the remaining 194 patients, bowel function was normal in 132 (68%). Twenty patients (10.3%) had soiling and 42 (21.7%) had constipation requiring laxatives or enemas. There was no difference in bowel function in relation to type of pull through operation. Only 34% of patients with Down's syndrome had normal continence. The majority of patients with HD continue to have disturbances of bowel function for many years before attaining normal continence.
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PMID:Long-term results of bowel function after treatment for Hirschsprung's disease: a 29-year review. 1700 9

We describe an 8-years old female with supernumerary chromosome der(21)t(4;21)(q25;q22) resulting in partial trisomy 4q25-qter and partial trisomy 21(pter-q22). The extra material was originated from a reciprocal balanced translocation carrier mother (4q;21q). Karyotyping was confirmed by FISH using whole chromosome painting probes for 4 and 21q and using 21q22.13-q22.2 specific probe to rule out trisomy of Down syndrome critical region. Phenotypic and cytogenetic findings were compared with previously published cases of partial trisomy 4q and 21q. Our patient had the major criteria of distal trisomy 4q namely severe psychomotor retardation, growth retardation, microcephaly, hearing impairment, specific facies (broad nasal root, hypertelorism, ptosis, narrow palpebral fissures, long eye lashes, long philtrum, carp like mouth and malformed ears) and thumbs and minor feet anomalies. In spite of detection of most of the 3 copies of chromosome 21, specific features of Down syndrome (DS) were lacked in this patient, except for notable bilateral symmetrical calcification of basal ganglia. This report represents further delineation of the phenotype-genotype correlation of trisomy 4q syndrome. It also supports that DS phenotype is closely linked to 21q22. Nevertheless, presence of basal ganglia calcification in this patient may point out to a more proximal region contributing in its development in DS, or that genes outside the critical region may influence or control manifestations of DS features.
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PMID:Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome. 1771 Aug 74


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