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1.
A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. 相似文献
2.
An unusual syndrome of widened medullary cavities of the metacarpals and phalanges,aortic calcification and abnormal dentition 总被引:1,自引:0,他引:1
Two children showing the unusual features of dental dysplasia, thoracic aortic calcification, osteoporosis and radiographic changes of the hands similar to that seen in severe anemia are reported. The etiology is unknown, although both children had a history of fever of unknown origin in early infancy. There were no hematologic, genetic or biochemical abnormalities. This combination of clinical and radiographic features has not been previously reported. 相似文献
3.
A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth
as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists.
The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death
at 21 months of age.
Received: 7 June 2000 Accepted: 3 August 2000 相似文献
4.
Rozovsky K Sosna J Le Merrer M Simanovsky N Koplewitz BZ Bar-Ziv J Cormier-Daire V Raas-Rothschild A 《Pediatric radiology》2011,41(10):1298-1307
Background
Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition with a grave prognosis. 相似文献5.
Gonzalez GE Caruso PA Small JE Jyung RW Troulis MJ Curtin HD 《Pediatric radiology》2008,38(8):892-897
Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients. 相似文献
6.
K. Kozlowski 《Pediatric radiology》1974,2(1):61-64
A 4 8/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia is described. The spondylo-meta-epiphyseal dysplasias of micromelic type present a group of diseases with versatile clinical and radiographic findings. Marked shortening of stature with generalised spondylo-meta-epiphyseal changes in radiographic examination are a constant finding. No biochemical changes were yet reported. The difficulties of early recognition and classification of these cases are stressed. 相似文献
7.
Idiopathic arterial calcification in infancy is usually fatal with death in early life and diagnosis at post mortem. This report describes a unique, late presentation with hypertension and cardiac failure in a child aged 33 months, found to have widespread arterial calcification at radiological imaging. The calcium-phosphate axis was normal and there was no other demonstrable cause for calcification. Additionally, the histological features of arterial calcification at renal biopsy paralleled the findings in infants with this disorder. The late presentation in this case is unusual and has not been previously reported. Ultrasound and CT are sensitive for calcification, and the disease should be suspected in children presenting with cardiac or respiratory manifestations and features of arterial calcification, where no metabolic cause is established. 相似文献
8.
ANTONELLA TOFFOLO DANIELE TREVISANUTO STEFANO MENEGHETTI ENRICO TALENTI GRAZIELLA ZACCHELLO VINCENZO ZANARDO 《Pediatrics international》1997,39(4):433-436
Renal calcification is a known complication of long-term furosemide therapy in infants with bronchopulmonary dysplasia (BPD). In a prospective study the clinical course and long-term renal sequelae of renal calcifications of 19 consecutive premature neonates (birthweight < 1250 g) with bronchopulmonary dysplasia who did not receive furosemide were examined. Infants were divided into two different groups on the basis of ultrasound evidence of renal calcifications (RC group) or absence of renal calcifications (NRC group). Serial examinations, performed at the age of 1, 2, 3, 6, 9 and 12 months, showed that 12 infants at the mean age of 68.5 ± 12.8 days of life had renal calcifications (63%), and 3 of them had nephrolithiasis; 8 had bilateral renal calcifications. Among the 9 survivors, 2 had chronic renal calcifications at the age of 9 months; however, all normalized at the age of 12 months. Twelve infants received hydrochlorothiazide and spironolactone (63%), 17 had prolonged courses of xanthines and dexamethasone (89.5%), while furosemide was not part of the routine pharmacological administration. Statistical analysis showed that birthweight, gestational age, Apgar score and length of parenteral nutrition were comparable in the RC and NRC group infants. Mean serum creatinine, creatinine clearance, fractional sodium excretion and urinary calcium excretion values during the 12-month study period were comparable in the RC and NRC groups. Mechanical ventilation and hospital stay length were instead associated with renal calcification occurrence. The strongest indicator of renal calcification risk for this high-risk population is the severity of the unresolved acute lung disease, where different facets of respiratory management, other than the addition of furosemide, represent sufficient stimuli and renal injury to potentiate stone formation. 相似文献
9.
A girl with a new variant of mesomelic dysplasia is reported. The disorder is characterized by mesomelic brachymely, especially of the arms, a short ulna, relatively long fibula, brachymetacarpy, minor symmetrical changes at the hands, developmental arrest of the spine, contractures, and micrognathia. The clinical and radiological differential diagnostic features are discussed. 相似文献
10.
We present a case of progressive pulmonary calcification associated with prolonged respiratory insufficiency in a 2-year-old boy with a history of orthotopic liver transplantation. This case demonstrates the potentially progressive nature of pulmonary calcification and that it can present with respiratory insufficiency at a later period after transplantation than previously thought. We describe radiological findings and discuss established as well as plausible pathological mechanisms contributing to the development of calcifications in these patients. 相似文献
11.
G. Nishimura T. Okada K. Tachibana M. Adachi M. Masuno K. Imaizumi N. Aida 《European journal of pediatrics》1997,156(8):631-635
We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies. The
present patients, a 6-year-old girl and a 15-year-old boy, were almost equally affected. Craniofacial anomalies included a
sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked
nose, hypoplastic alae nasi and a pointed chin. Shallow orbits, short anterior cranial fossae and bitemporal bossing found
on skull radiograph corresponded with the facial dysmorphism. Thickening of the dorsum sellae was another hallmark in the
skull. Skeletal survey revealed mild osteopenia, interpediculate narrowing of the lumbar spine with short neural arches and,
most important, osteopathia striata of the long tubular bones. There was no sclerosis of the craniofacial bones. The clinical
and radiological findings in the present patients were overall inconsistent with those of previously known skeletal dysplasias
and congenital malformation syndromes, which possess osteopathia striata as a cardinal feature.
Conclusion The unique clinical and radiological constellation of our patients constitutes a hitherto unknown bone dysplasia.
Received: 26 September 1996 / Accepted: 3 February 1997 相似文献
12.
Both parents of a female infant with mesomelic dysplasia, type Langer, showed signs of dyschondrosteosis. This further observation suggests that this type of mesomelic dysplasia may be due to homozygosity for the autosomal dominant gene of dyschondrosteosis. 相似文献
13.
目的:探讨B型肠神经元发育不良的临床病理特征及诊断。方法对9例B型肠神经元发育不良患儿的临床病理特征进行分析,患儿年龄3个月~1岁,平均7.8个月,男女比为5∶4,均表现为便秘及腹胀进行性加重;标本进行全层肠段取材,常规制片,行HE和免疫组织化学染色,观察肠神经元及神经节细胞形态和数量的变化。结果本组病例狭窄肠段肠壁肌间神经节细胞数明显增多,神经节细胞密度增高,可见巨神经丛及孤立或异位神经节细胞,近端肠段肠壁肌间神经节细胞数量和密度正常,未见巨神经丛及孤立或异位神经节细胞,形态符合B型肠神经元发育不良的诊断标准,结合临床表现,可诊断为B型肠神经元发育不良。结论对B型肠神经元发育不良的诊断标准应严格掌握,临床上必须有典型巨结肠类缘病的表现,病理形态上具有巨神经节、孤立或异位神经节细胞、肠壁神经节细胞数目增多,并排除其他原发性因素后,才能诊断为B型肠神经元发育不良。 相似文献
14.
The Jansen type of metaphyseal dysplasia (JMD) is a rare disorder characterized by growth disturbance and progressive metaphyseal changes initially reminiscent of rickets or primary hyperparathyroidism. Seven of the 16 patients described until now presented with hypercalcaemia of unknown origin. We report studies of calcium metabolism in a hypercalcaemic girl with JMD during the first 3 years of life. The patient presented with hypercalcaemia, hypercalciuria, elevated urinary phosphate and cyclic adenosine monophosphate (AMP) excretion as well as increased 1,25-dihydroxyvitamin D concentrations in serum despite suppressed or low normal values of circulating intact parathyroid hormone (PTH) and PTH related peptide (PTHrP). Measurements of biochemical indices of bone turnover indicated increased bone resorption without sufficient compensatory bone formation. The study suggests that the hypercalcaemia in our patient was caused by an unknown factor, which is not PTH or PTHrP, with osteolytic activity and stimulatory effect on the proximal kidney tubule. 相似文献
15.
Shinkai Inoue Atsushi Ishii Goro Shirotani Makoto Tsutsumi Eiji Ohta Masatoshi Nakamura Toshiko Mori Takahito Inoue Gen Nishimura Atsushi Ogawa Shinichi Hirose 《Pediatrics international》2014,56(4):e26-e29
We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a “Swedish key” appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra‐ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the Calcium‐Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder. 相似文献
16.
Three brothers with a constitutional skeletal dysplasia characterized by an excessively retarded ossification, principally of the epiphyses, the pelvis, the hands and the feet, are reported. In the hands and feet the retarded ossification is combined with an abnormal modeling of the bones.All the children appeared normal at birth. At the time of examination a moderate degree of dwarfism could be predicted. There was no mental retardation. All laboratory investigations including chromosomal analyses and examination for acid mucopolysaccharides in the urine were normal. Parental consanguinity suggest an autosomal recessive inheritance. There is no resemblance of this disorder to any of the hitherto described groups of constitutional diseases of bones. 相似文献
17.
目的总结支气管肺发育不良(BPD)患儿2岁内再入院的临床情况。方法回顾性分析121例BPD患儿2岁内242例次因反复下呼吸道感染再入院的临床资料。结果 242例次再入院BPD患儿中,115例次(47.5%)有喘息;1~2岁患儿喘息发生率高于1岁内患儿(P0.05)。193例次行胸部影像学检查,结果示囊泡影31例次(16.1%)。肺功能检查结果示BPD患儿的每公斤体重潮气量(TV/kg)、达峰时间比(TPEF/TE)、达峰容积比(VPEF/VE)、50%潮气量时的呼气流速(TEF50)、75%潮气量时的呼气流速(TEF75)均低于无呼吸道疾病的对照组,而呼吸频率高于对照组(P0.05)。28例行支气管镜检查,气道发育异常21例(75%)。242例次均吸入糖皮质激素,无治疗相关不良反应发生;6例次静脉使用人脐血间充质干细胞(hUCB-MSCs),无不良反应发生,其中1例治疗后顺利脱氧。结论因下呼吸道感染再入院BPD患儿喘息发生率随年龄增长而增高,其肺功能以小气道阻塞、低肺容量时呼气流速降低和呼吸频率增快为主要表现,多伴有气道发育异常。吸入糖皮质激素可用于BPD再入院患儿急性期抑制炎症反应;hUCB-MSCs输注后短期安全可行,并提示可能对BPD恢复有一定益处。 相似文献
18.
G. Perri 《Pediatric radiology》1981,11(2):109-113
The clinical and the radiological features of a new bone dysplasia are described. The major radiological changes consist of generalized platyspondyly and a striking enlargment of the epi-metaphyses in the long bones and in the hands. There are additional findings. 相似文献
19.
We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child. 相似文献