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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Anatomy and embryology 131 (1970), S. 39-44 
    ISSN: 1432-0568
    Keywords: Vertebral column development ; Achondrogenesis ; Intravertebral septum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Ein totgeborenes Kind mit Achondrogenesis wies eine Entwicklungshemmung der Wirbelsäule auf. In der aus einem primitiven, mesenchymalen Gewebe anstatt normalen Knorpelgewebes bestehenden Wirbelsäulenanlage zeigten die Wirbelkörper zwischen den Bandscheibenanlagen zu diesen parallel laufende Septen. Diese Septen werden als pathologische Fortentwicklung einer persistierenden primären Gliederung der Sklerotome, der Intravertebralsepten, angesehen, die normalerweise durch den Proliferationsdruck des sich entwickelnden Anlageknorpels verdrängt wird.
    Notes: Summary A stillborn child with Achondrogenesis showed an arrest of the development of its vertebral column. The vertebral column “anlage” consisted of a primitive mesenchymal tissue instead of normal cartilage, and the vertebral bodies were divided into unequal parts by septa running parallel to the intervertebral disc “anlagen”. These septa are considered to be a pathological development of the persisting primary division of the sclerotoms, the intravertebral septa. They normally are suppressed by the proliferation pressure of the developing “anlage” cartilage.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 41 (1963), S. 354-355 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 113-139 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”. In Gm1 gangliosidosis types I and II, Fucosidosis, Mannosidosis and in infantile Sulfatidosis with mucopolysacchariduria enzyme defects have been identified which are thought to be causally related to the diseases. In others the pathogenesis is unknown. They are tentatively named Mucolipidosis I, II and III.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 108 (1970), S. 171-186 
    ISSN: 1432-1076
    Keywords: Dysostosis metaphysaria ; Chondrodysplasia metaphysaria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Beschreibung eines vom Säuglingsalter bis gegen Ende des 18. Lebensjahres verfolgten besondersartigen Falles von metaphysärer Chondrodysplasie (Dysostosis metaphysaria der bisherigen Terminologie). Charakteristika: Angeborene Manifestation im Sinne des rhizomelen Minderwuchses (“Frühtyp”); jahrelang nachweisbar gebliebene Ossifikations-Entwicklunsverzögerung zahlreicher Wirbelkörper im Sinne “frontaler Wirbelspalten”; Nichtbeteiligung der kurzen Röhrenknochen von Händen und Füßen; auffällige Physiognomie. Die Skeletveränderungen bildeten sich während der Kindheit spontan zurück; es kam zu praktisch normaler Konfiguration der Knochen und einer Endlänge des Patienten von 166 cm. Sorgfätige Stoffwechseluntersuchungen ergaben Normalbefunde.
    Notes: Abstract This is the report of a patient with an unusual form of metaphyseal dysostosis who was followed from infancy to adulthood. The bone dysplasia of this patient is characterized by the following features: 1. Manifestation at birth. 2. Rhizomelic shortness of stature. 3. Roentgenographic bone changes consisting of splaying, cupping and irregularity of the metaphyses with deep radiolucent metaphyseal defects and bicentric ossification of the vertebral bodies. 4. Spontaneous remission of the lesions during chilhood leading to near-normal configuration of the bones and an adult height of 166 cm. 5. Normal biochemical findings including those of the calciumphosphate —amino acid — and mucopolysaccharide metabolism.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 116 (1974), S. 223-251 
    ISSN: 1432-1076
    Keywords: Achondrogenesis ; Anosteogenesis ; “Chondrodystrophy” ; Endochondral ossification disorders ; Homozygous achondroplasia ; Hypophosphatasia ; Micromelic dwarfism ; Parenti-Fraccaro type of connatally lethal dwarfism ; Thanatophoric dwarfism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Mitteilung von 4 „sicheren” und 2 „vermuteten” Fällen von Achondrogenesis, wobei 2 Beobachtungen eingehend mit pathologisch-anatomischen Befunden berichtet werden. Das in der Literatur verzeichnete bisherige Gesamt-Beobachtungsmaterial an Fällen sogenannter Achondrogenesis (mehr als 35 Beschreibungen) erscheint — auch wenn keine Fälle von homozygoter Achondroplasie sowie von thanatophorem Zwergwuchs darin mitenthalten sind — als inhomogen. Insbesondere sollte bei künftigen Verdachtsfällen die biochemisch-histochemische Abgrenzung der fetalen Frühform der Hypophosphatasie nicht versäumt werden. Unsere Fälle 1 und 2 repräsentieren zwei sich innerhalb der Achondrogenesis selbst schon seit langem abzeichnende Typen. Dabei weist Typus 1 (den „Basisfällen” entsprechend) eine sehr viel stärkere Ossifikationsstörung des Extremitätenskelets sowie der Rippen (evtl. fakultativ auch des Schädels) auf. Pathohistologisch liegen beiden Typen tiefgreifende Entwicklungshemmungen des Knorpels sowie erhebliche Störungen der Knochenbildung (mit der „Notlösung” einer metaplastischen Knochenbildung) zugrunde, graduell unterschiedlich ausgeprägte Störungen, die aber wohl als „Variationen über ein Thema” angesehen werden dürfen. Der Versuch einer schärferen Aufgliederung der Achondrogenesis sollte u. E. erst dann gemacht werden, wenn größere Fallzahlen der sich bisher zeigenden Typen mit entsprechend detaillierten pathoanatomischen und vor allem biochemischen Untersuchungsbefunden vorliegen.
    Notes: Abstract 4 “certain” and 2 “presumed” cases of achondrogenesis are described; 2 of them with a detailed report of patho-anatomical findings. The total of cases of so-called achondrogenesis reported in the literature up to date (more than 35 cases) has to be regarded as inhomogenous — even if cases of homozygous achondroplasia and of thanatophoric dwarfism are not included in this material. In suspected cases of achondrogenesis in future there should not be neglected especially a biochemical-histochemical differentiation of the fetal precocious manifestation of hypophosphatasia. Our cases 1 and 2 represent two types which can be differentiated within achondrogenesis itself since a long time. Histo-pathologically both types are characterized by fundamental disturbances in cartilage formation as well as by a marked disorder of osteogenesis (with the “emergency” solution of metaplastic bone formation). The attempt of a precise classification of achondrogenesis should not be made, according to our opinion, before a large series of cases from each of the currently recognized types with corresponding detailed pathological and especially biochemical documentation is available.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Beckwith-Wiedemann syndrome ; Berardinelli-Seip syndrome ; EMG syndrome ; Exomphalos ; Gigantism ; Hemihypertrophy ; “Kerbenohr” ; Leprechaunism ; Lipodystrophy ; Macroglossia ; Tendency to malignoma ; Pseudohypothyrosis ; Sotos syndrome ; Wiedemann-Beckwith syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Exomphalos-Makroglossie-Gigantismus-(EMG-) Syndrom häufiger als Sotos-Syndrom (cerebraler Gigantismus) und wesentlich häufiger als Berardinelli-Seip-Syndrom (angeborene generalisierte Lipodystrophie). Anfängliche Fehldiagnose “Hypothyreose” bei etwa jedem 6. EMG-Fall. Entwicklung einer mehr/minder deutlichen Hemihypertrophie bei bisher mindestens 24 von 171 EMG-Fällen; Entwicklung von bisher 10 intraabdominalen und 2 extraabdominellen Geschwülsten bei 11 EMG-Kindern, davon 4 Kindern mit Hemihypertrophie. Keine entsprechende Hemihypertrophie- und/oder Geschwulst-Häufung beim Berardinelli-Seip-Syndrom und beim Sotos-Syndrom. “Kerbenohr” relativ häufiges und wichtiges, aber unspezifisches Mikrosymptom beim EMG-Syndrom. Unterscheidung der Röntgenologie des Skelets bei den 3 Syndromen. Betrachtungen zur Genetik dieser 3 eigenständigen klinischen Entitäten.
    Notes: Abstract The incidence of the EMG syndrome is higher than that of Sotos' syndrome (cerebral gigantism) and substantially higher than that of Berardinelli-Seip syndrome (congenital generalized lipodystrophy). An initial mistaken diagnosis of “hypothyroidism” is made in approximately every sixth case of EMG. More or less pronounced hemihypertrophy has developed in at least 24 out of 171 EMG cases to date and 10 intraabdominal and 2 extraabdominal tumors have developed in 11 cases of EMG, among which 4 children were affected by hemihypertrophy. There is no corresponding incidence of hemihypertrophy and/or tumors in Berardinelli-Seip or Sotos' syndrome. “Kerbenohren” (slit-like indentations of the ear lobes) are a relatively frequent and important but nevertheless nonspecific symptom in EMG syndrome. The roentgenologic findings in the 3 syndromes are differentiated and the genetics of these 3 distinct clinical entities is considered.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 129 (1978), S. 215-218 
    ISSN: 1432-1076
    Keywords: Osteogenesis imperfecta tarda ; Osteogenic sarcoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe the case history of a 13 years old boy who developed osteogenic sarcoma of the left thigh, six years after diagnosis of osteogenesis imperfecta tarda with a positive family history. Only four other patients with this disease combination are reported in the literature. Preoperative treatment with high-dose Methotrexate caused marked tumor regression, as shown at examination of amputation material. The inter-relationships between the two disorders are discussed and the literature is briefly reviewed.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 136 (1981), S. 311-316 
    ISSN: 1432-1076
    Keywords: Bones, growth and development ; Bones, osteochondrodysplasias ; Epiphyses ; Skeletal system, dysplasia epiphysealis hemimelica ; Trevor disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report describes a case of “dysplasia epiphysealis hemimelica” with the first clinical manifestations at birth and increasing difference in the length of the lower extremities during infancy. The diagnosis was made at the age of 3 years when marked disability had already occurred. There was involvement of both legs and, to a lesser degree, the arms suggesting that this is a systemic disorder.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 137 (1981), S. 313-316 
    ISSN: 1432-1076
    Keywords: Mesomelic dysplasia ; Peculiar face ; Flexion deformities of fingers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a boy with mesomelic dysplasia. The mesomelic brachymelia, especially of the arms, was associated with delayed ossification of the skull, a peculiar face, a short neck with pterygia, symmetrical flexion deformities of the fingers, hypospadias, and other abnormalities. The authors are not able to classify the child's syndrome nosologically.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 137 (1981), S. 95-99 
    ISSN: 1432-1076
    Keywords: Sarcoidosis ; Cervical ; Mediastinal and facial lymphadenopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report describes the course of sarcoidosis in a case with excessive lymphadenopathy in the cervical and facial regions over a period of more than ten years. The patient was followed by the pediatrician into adult life.
    Type of Medium: Electronic Resource
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