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  • 1
    Electronic Resource
    Electronic Resource
    A case of skeletal dysplasia with advanced carpal ossification and “monkey wrench” appearance of the femora: mild Desbuquois dysplasia? (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 1040-1042 
    Details
    ISSN: 1432-1076
    Keywords: Key words Skeletal dysplasia ; Desbuquois dysplasia ; Mild ; phenotype ; Autosomal recessive trait
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 14-year-old Japanese boy with radiographic features resembling those of Desbuquois dysplasia, including advanced carpal ossification, a “monkey wrench” appearance of the proximal femora, mild spondylar dysplasia, and generalized osteopenia. In contrast to the hitherto known patients with this disorder, however, his birth length was normal, and his short stature, which became apparent postnatally, was much milder than that of the previously reported cases (approximately -5 SD of average), and the joint laxity was more subtle. In addition, facial dysmorphism was absent, as were radial deviation of the second fingers and thoracolumbar kyphoscoliosis. Conclusion The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050530
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  • 2
    Electronic Resource
    Electronic Resource
    Generalized metaphyseal modification with cone-shaped epiphyses following long-term administration of 13-cis-retinoic acid (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 432-435 
    Details
    ISSN: 1432-1076
    Keywords: Key words 13-cis-retinoic acid  ;  Neuroblastoma  ; Metaphyseal cupping  ;  Cone-shaped epiphysis  ;  Short stature
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 6-year-old girl with short stature which developed following the administration of 13-cis-retinoic acid (a synthetic derivative of vitamin A or retinoid) for 40 months as adjunct chemotherapy for neuroblastoma. Radiographic examination suggested osteophyte formation in the cervical spine, which is the most common skeletal manifestation of retinoid toxicity [10, 11]. In addition, severe metaphyseal cupping with a cone-shaped epiphysis primarily affecting rapidly growing long bones was found, which represented impaired enchondral ossification. This epi-metaphyseal alteration, though unusually severe, was reminiscent of the premature epiphyseal closure which has been described as an adverse effect of 13-cis-retinoic acid [10–12]. Other minor skeletal changes included posterior scalloping of the vertebral bodies and increased interpediculate distances, which were related to a widened spinal canal found on CT. A literature search disclosed several primary skeletal dysplasias with superficial radiological similarities to those of the present patient. However, these entities showed significant clinical and radiological differences from our patient. Conclusion The precise cause of the generalized skeletal alteration in the present patient remained unknown, but it conceivably resulted from the administration of 13-cis-retinoid acid.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050631
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  • 3
    Electronic Resource
    Electronic Resource
    A mild variant of Desbuquois dysplasia (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 479-483 
    Details
    ISSN: 1432-1076
    Keywords: Key words Skeletal dysplasia ; Desbuquois dysplasia ; Mild phenotype ; Siblings ; Diastrophic dysplasia sulphate transporter gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a skeletal dysplasia resembling Desbuquois dysplasia. The skeletal alterations in the present disorder, including generalized osteopenia, mild modification of the vertebral endplates, epiphyseal flattening of the long bones, broad proximal femora with a spur-like projection of the lesser trochanters (a monkey wrench appearance of the proximal femora), and advanced carpal skeletal age, are almost identical to those of Desbuquois dysplasia. However, postnatal growth failure and minor spondylo-articular problems in the present disorder contrast with the conspicuous prenatal growth failure and severe spondylo-articular deformities of Desbuquois dysplasia. Short stature in the present disorder does not reach the degree of Desbuquois dysplasia. Molecular investigation of one patient excluded abnormalities of the diastrophic dysplasia sulphate transporter gene. Conclusion The combination of skeletal alterations identical to those of Desbuquois dysplasia with milder short stature and spondylo-articular problems in the present patients suggests the nosological proposal of “a mild variant of Desbuquois dysplasia”.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051124
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  • 4
    Electronic Resource
    Electronic Resource
    Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 631-635 
    Details
    ISSN: 1432-1076
    Keywords: Key words Skeletal dysplasia ; Osteopathia striata ; Short stature ; Dysmorphic facies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050680
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  • 5
    Electronic Resource
    Electronic Resource
    Axial spondylometaphyseal dysplasia (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 627-630 
    Details
    ISSN: 1432-1076
    Keywords: Key words Bone dysplasia ; Spondylometaphyseal dysplasia ; Axial spondylometaphyseal dysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present a previously undescribed skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. Two of the three cases were siblings. Retinitis pigmentosa and optic atrophy are associated findings. Conclusion We describe a new type of spondylometa-physeal dysplasia (SMD) and propose the name axial SMD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050679
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  • 6
    Electronic Resource
    Electronic Resource
    Effects of crystal-field-induced level-mixing on luminescence properties of Eu^3^+ IN Ca(PO"3)"2 glass
    Amsterdam : Elsevier
    Journal of Luminescence 40-41 (1988), S. 111-112 
    Details
    ISSN: 0022-2313
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0022-2313(88)90112-3
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  • 7
    Electronic Resource
    Electronic Resource
    Ischio-spinal dysostosis: a previously unrecognised combination of malformations (1999)
    Springer
    Pediatric radiology 29 (1999), S. 212-217 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. Ischial hypoplasia is an extremely rare malformation, both as an isolated anomaly and as a syndromic constituent. Objective. To elucidate the clinical and radiological characteristics in five patients with the combination of ischial hypoplasia and spinal malformations. Materials and methods. The clinical records and radiographs of two females and three males, ranging in age from 3 months to 38 years, were evaluated. Results. Ossification defects of the ischial rami were symmetrical and total in four patients, whereas the right ischial ramus was partly ossified in the other patient. All patients possessed multiple segmental defects of the spine, with rib anomalies of varying severity. One patient characteristically showed multiple rib gaps, resulting in respiratory distress. Severe anomalies of the cervical spine were evident in two patients. Four patients exhibited lumbosacral hypoplasia, which ultimately led to cauda equina syndrome in three older patients. One patient had mild facial dysmorphism and another had a diversity of anomalies, including ichthyosiform skin changes. Four patients were sporadic cases, whereas the other patient was born to consanguineous parents. Conclusions. The combination of anomalies in these patients constitutes a recognisable pattern of malformations but may represent a heterogeneous group of disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050574
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  • 8
    Electronic Resource
    Electronic Resource
    MR findings of bowlegs in toddlers (1999)
    Springer
    Pediatric radiology 29 (1999), S. 826-834 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. Toddlers with severe physiologic tibial bowing are considered to be at risk for the development of Blount's disease. Objective. To correlate MR findings of the knee with the clinical outcome in toddlers with severe physiological tibial bowing. Materials and methods. MR findings were evaluated in 22 affected legs of 14 children with severe tibial bowing (mean age 1.9 years). In 18 affected legs, MR findings were compared with the transition of the tibial metaphyseal-diaphyseal angle (MDA) and tibiofemoral angle (TFA) measured serially between 2 and 3 years of age. Results. MR findings of severe tibial bowing comprised undulation of the posteromedial physis of the tibia (3/22), signal alterations in the medial tibial metaphysis (10/22), T2 prolongation in the posteromedial tibial epiphyseal cartilage (14/22) and signal changes in the medial menisci (18/22). The decrease in the TFA was different in the legs with and without increased signal in the epiphyseal cartilage, and the decrease in the MDA was different in the legs with and without physeal undulation. Conclusion. MR imaging findings can predict the retarded resolution of tibial bowing, which may be a risk factor for the development of Blount's disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050706
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  • 9
    Electronic Resource
    Electronic Resource
    Japanese type of spondylo-metaphyseal dysplasia (1994)
    Springer
    Pediatric radiology 24 (1994), S. 194-197 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02012189
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  • 10
    Electronic Resource
    Electronic Resource
    A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents (1998)
    Springer
    Pediatric radiology 28 (1998), S. 43-47 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a hitherto unknown, lethal osteochondrodysplasia in two Japanese siblings born to consanguineous parents. The skeletal abnormalities are characterised by mesomelic brachymelia with bowed forearms, a round pelvis with shortened greater sciatic notches, an ossification defect of the pubic bones, and absence of ossification centers in the cervical vertebral bodies. The associated visceral anomalies comprised periportal fibrosis and cystic dysplasia of the intrahepatic bile ducts, pancreatic ductal ectasia, a simple renal cyst, microcephaly with multifocal laminar necrosis and ectopic gray matter, dysplastic tracheobronchial cartilage, abnormal lobulation of the lung, diaphragmatic hernia, and stenotic pulmonary valve. Thrombocytopenia was present but megakaryocytes were slightly increased in the bone marrow. The patients showed various dysmorphic features including aniridia, a long palpebral fissure, prominent nasal bridge, beaked nose, flat philtrum, low-set fleshy ears, micrognathia with submucosal cleft palate, and multiple joint contractures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050289
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