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51.
Noriko Aida 《Journal of magnetic resonance imaging : JMRI》1998,8(2):317-326
We reviewed neuroradiologic findings of Fukuyama congenital muscular dystrophy (FCMD) and correlated them with the known neuropathology. All patients showed thick and bumpy cortices with shallow sulci corresponding to polymicrogyria, and approximately half of the patients showed pachygyric cortex with smooth surface corresponding to type II lissencephaly. The two types of cortical dysplasias presented characteristic distributions: the former demonstrated frontal lobe involvement in all and parietotemporal lobe involvement in some, whereas the latter involved the temporo-occipital lobes. Most patients showed prolonged T1 and T2 signal in the white matter, which was indistinct in neonates and infrequently seen in adolescents. Cerebellar polymicrogyria depicted as disorganized cerebellar foliation accompanying cysts were found more than 90% of the patients. In conclusion, brain MRI demonstrates findings consistent with the known neuropathology of FCMD. The detection of the two types of cerebral cortical dysplasia with characteristic distribution and cerebellar abnormalities is helpful in the differential and early diagnosis. 相似文献
52.
Anthonie J. van Essen Coen J. F. Schoots Richard A. van Lingen Marian J. E. Mourits Joep H. A. M. Tuerlings Bieke Leegte 《American journal of medical genetics. Part A》1993,47(1):85-88
We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley-Liss, Inc. 相似文献
53.
Open reduction and varus-detorsion osteotomy with femoral shortening in treatment of congenital dislocation of the hip 总被引:2,自引:0,他引:2
In this study, we clinically and radiographically evaluated open reduction with shortening of the femur in children more
than 1 year old with refractory congenital dislocation of the hip. In 19 children (aged 1–4 years), 22 joints were operated
on. The patients were followed-up for an average of 8.7 years (range, 2–13 years). Functional results were satisfactory in
all joints, and differences in limb length were not significant. Radiographically, good results (grades I and II) were obtained
in 16 of the 22 joints, according to Severin's criteria. This surgical procedure may be indispensable for treating refractory
congenital dislocation of the hip in children over 1 year old.
Received for publication on May 2, 1997; accepted June 3, 1998 相似文献
54.
Wing-Yen Wong Donald Williams Marilyn L. Slovak Bishan Charak Amitabha Mazumder David Snyder Darleen R. Powars Russell K. Brynes 《American journal of hematology》1993,43(2):133-138
Congenital agranulocytosis terminating in acute myelogenous leukemia has been previously reported in only two cases of adolescent males. We describe the clinical and laboratory features of a 13-year-old male with congenital agranulocytosis, treated with G-CSF with initial good neutrophil response, who subsequently developed acute myeloid leukemia. This rare complication may define a preleukemic subset of patients for whom G-CSF therapy is ineffective. The diagnostic challenges of this case are presented. 相似文献
55.
Women's life situation and experiences during pregnancy were prospectively studied in relationship to the development of congenital malformations (CMs) in their offspring, within samples of 84 offspring of pregnant index women with a history of nonorganic psychosis and 100 offspring of pregnant control women. Within both samples, offspring CMs were related to more problematic maternal life situations during pregnancy, the common denominator in these problems across samples being difficulties associated with the husband. Little relationship was found between CMs and the woman's own attitude toward the pregnancy or her mental condition during pregnancy. In both groups, total life situational problems and distress were more strongly related to the development of very minor CMs (termed "variants") than to the major, classical CMs. 相似文献
56.
Josephine Shallo-Hoffmann Dirk Watermeier Jürgen Petersen Hermann Mühlendyck 《Neurosurgical review》1988,11(2):151-158
Verification of inheritance in congenital nystagmus (CN) is only possible through the identification of more than one affected member in a family, since in a single case there are no accurate clinical differentiations between spontaneous and inherited CN. We performed electronystagmographic examinations (ENG) to search for abnormal involuntary eye movements as a sign of heredity in seemingly unaffected members of CN families.ENG registrations were performed under three test conditions: (1) with the subject fixating a target, (2) with the room lights off and (3) with closed eyes.Fifty normally sighted individuals (group (a) underwent the test procedure to provide a baseline of normality. Five CN families (three dominant, two sex-linked recessive) were tested as group (b). The eye movement recordings were analysed in terms of nystagmus intensity (amplitude x frequency of the involuntary saccade). In every one of the five families, abnormalities in seemingly non-affected members could be demonstrated: in four families, fastphase instabilities, in the fifth family a true (CN) (slowphase instability).All certain gene carriers were diagnosed correctly by the ENG.These findings indicate a method for detecting slightly affected members in dominant pedigrees and female gene carriers in sex-linked mode of transmission. 相似文献
57.
Michael F. Marmor 《Documenta ophthalmologica. Advances in ophthalmology》1989,71(3):265-269
A 10-year-old Persian girl has symptoms of congenital stationary night blindness and some drusen-like lesions in the region of the vascular arcades. Her electroretinogram shows no rod response to a weak stimulus, but a large (475 V) slow scotopic response to a strong stimulus that is unchanged by photopic conditions (15 F1 background illumination). However, the response to flicker had the typical (smaller) amplitude of a cone signal. This may represent a new form of night blindness in which rod sensitivity is reduced so that there is no vision under dim conditions but rod function still persists under photopic conditions. 相似文献
58.
先天性高肩胛症的局部解剖特征及手术治疗 总被引:4,自引:0,他引:4
目的 :报道先天性高肩胛症的病理及局部解剖特征及其手术疗效。方法 :临床观察了 12例先天性高肩胛症软组织和骨骼的局部解剖特点 ,并采用肩胛骨上部切除和改良Woodward手术联合治疗。结果 :随访 12~ 3 0个月 ,肩胛骨下移 1~ 2肋间隙 ,平均 1.7肋间隙 ,肩部外观、肩关节功能均明显改善。结论 :先天性高肩胛症为软组织和骨骼的复合病变 ,联合手术可明显改善畸形和关节功能 相似文献
59.
Beatriz E. B. V. Bermudez Camila M. de Oliveira Mônica N. de Lima Cat Neiva I. R. Magdalena Adriane Celli 《American journal of medical genetics. Part A》2019,179(8):1426-1431
Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10‐year follow‐up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow‐up as well as adequate development and greater quality of life for patients with Down syndrome and their families. 相似文献
60.
Tezak Z Prandini P Boscaro M Marin A Devaney J Marino M Fanin M Trevisan CP Park J Tyson W Finkel R Garcia C Angelini C Hoffman EP Pegoraro E 《Human mutation》2003,21(2):103-111
Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense mutations have been found in milder CMD with partial laminin alpha2 deficiency. Here, we studied nine patients diagnosed with CMD who showed abnormal white-matter signal at brain MRI and partial deficiency of laminin alpha2 on immunofluorescence of muscle biopsy. We screened the entire 9.5 kb laminin alpha2 mRNA from patient muscle biopsy by direct capillary automated sequencing, single strand conformational polymorphism (SSCP), or denaturing high performance liquid chromatography (DHPLC) of overlapping RT-PCR products followed by direct sequencing of heteroduplexes. We identified laminin alpha2 sequence changes in six of nine CMD patients. Each of the gene changes identified, except one, was novel, including three missense changes and two splice-site mutations. The finding of partial laminin alpha2 deficiency by immunostaining is not specific for laminin alpha2 gene mutation carriers, with only two patients (22%) showing clear causative mutations, and an additional three patients (33%) showing possible mutations. The clinical presentation and disease progression was homogeneous in the laminin alpha2-mutation positive and negative CMD patients. 相似文献