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  • 1
    Electronic Resource
    Electronic Resource
    Cutis marmorata telangiectatica congenita (1974)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 1 (1974), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Three of our own and 38 previously reported cases of cutis marmorata telangiectatica congenita (CMTC) are reviewed. Light and electronmicroscopic studies revealed atypical capillaries, venules, and veins in different cutaneous layers. Clinically, the lesions are manifested as telangiectasis, capillary hemangioma, cutis marmorata, venous hemangioma and varicose veins, depending on the type of vessels involved and the layer of skin affected. Secondary thrombosis with subsequent localized atrophy and ulceration occurs in a substantial number of cases. In at least 50% of cases there are associated findings. Hypoplasia or hyperplasia of „affected” or of „unaffected” organs is the most common association. Overwhelming sporadic occurrence, female reponderance, occasional minor manifestations in close relatives and considerable clinical variability suggest a multi-factorial etiology of CMTC.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0560.1974.tb00188.x
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  • 2
    Electronic Resource
    Electronic Resource
    Heterogeneity of Chondrodysplasia punctata (1971)
    Springer
    Human genetics 〈Berlin〉 11 (1971), S. 190-212 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Auf der Grundlage der Erfahrungen des Kieler Knochendysplasie-Registers sowie auf Grund einer ausführlichen Literaturübersicht werden die klinischen und genetischen Daten von zwei Haupttypen der Chondrodysplasia punctata dargestellt und diskutiert. 1. Conradi-Hünermann-Typ: Hier finden sich vor allem epiphysäre, häufig asymmetrische Calcifizierungen und dysplastische Skeletveränderungen. In 17% finden sich Katarakte, in 28% Hautveränderungen. 2. Rhizomeler Typ: Schwere, symmetrische, proximale Verkürzung der Extremitäten sowie deutliche Veränderungen der Metaphysen in Kombination mit Katarakt in 72% und Hautveränderungen in 28% der Fälle. Dieses Zustandsbild führt in der Regel vor Ende des 1. Lebensjahres zum Tode. Es ist wahrscheinlich durch Homozygotie eines autosomalen Gens verursacht. Möglicherweise gibt es noch weitere Typen der Chondrodysplasia punctata. Die Chondrodysplasia punctata wurde mit dem cerebro-hepato-renalen Syndrom (Zellweger) sowie mit den multizentrischen epiphysalen Ossifikationen bei der multiplen epiphysären Dysplasie verwechselt. This work was completed during the tenure of a visiting professorship of J. S. at the Dept. of Pediatrics, Univ. of Wisconsin, Madison, Wisc.
    Notes: Summary Based on the experience of the Kiel registry of bone dysplasias and on an extensive review of the literature, the clinical and genealogic data of two major types of Chondrodysplasia punctata are presented and discussed. The Conradi-Hünermann type of C.p. with predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes was reported in combination with cataracts in 17% and with skin changes in 28% of cases. It has a relatively good prognosis and is possibly caused by a dominant mutation. Genetic heterogeneity and the influence of environmental factors cannot be excluded in this type. The rhizomelic type of C.p. with severe, symmetrical proximal shortening of the extremities, and marked metaphyseal changes was reported to be combined with cataracts in 72% of the cases and with skin changes in 28%. It seems to be a lethal condition leading to death usually before the end of the first year of life. It is probably caused by the homozygous state of an autosomal gene. Other types of Chondrodysplasia punctata possibly exist. Chondrodysplasia punctata has been confused particularly with Zellweger's cerebrohepato-renal syndrome and with multicentric epiphyseal ossification in multiple epiphyseal dysplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274739
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  • 3
    Electronic Resource
    Electronic Resource
    Familial hydronephrosis (1973)
    Springer
    European journal of pediatrics 114 (1973), S. 313-321 
    Details
    ISSN: 1432-1076
    Keywords: Congenital hydronephrosis ; Autosomal dominant inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Sieben Publikationen über familiäre Hydronephrose infolge einer Ureterabgangsstenose wurden in der Weltliteratur gefunden. Über einen weiteren Fall — eine Mutter und zwei ihrer drei Söhne betreffend — wird hier berichtet. Es wird angenommen, daß die Stenose ihre Ursache in einer dominanten Genmutation hat. Ein-oder beidseitiges Betroffensein dürfte auf den Grad der Expressivität des Gens zurückzuführen sein. Es ist wahrscheinlicher, daß die Stenose durch eine intrinsischen Defekt als durch äußeren Druck von Bindegewebssträngen oder aberreirenden Gefäßen im Gebiet des Ureterabgangs verurscht wird.
    Notes: Abstract Seven publications on familial hydronephrosis apparently due to uretero-pelvic junction stricture have been collected from the literature. an eighth family with this defect is reported in this paper; it involves a mother and at least two of her sons. The following conclusions can be drawn from these cases: The defect is most probably due to a mutant dominant gene, bilateral or unilateral involvement representing variable expressivity of this gene. The uretero-pelvic junction stenosis in the familial cases is more probably due to an intrinsic defect at the junction than to an extrinsic defect such as fibrous bands or aberrant vessels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00569924
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  • 4
    Electronic Resource
    Electronic Resource
    Studies of malformation syndromes of man XXIV B: The Dubowitz syndrome. Further observations (1973)
    Springer
    European journal of pediatrics 116 (1973), S. 1-12 
    Details
    ISSN: 1432-1076
    Keywords: Recessive inheritance ; Parental consanguinity ; Mild mental retardation/normal intelligence ; Intrauterine growth retardation/shortness of stature/normal height ; Catch-up growth ; Microcephaly ; Malformation syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper reports observations on 6 new patients with the Dubowitz syndrome which was first defined by Grosse et al., in 1971 and which is a recessively inherited, pleiotropic malformation syndrome including variable degrees of intrauterine growth retardation and primordial shortness of stature, microcephaly, mental retardation, eczema, and a characteristic appearance, voice and combination of minor anomalies. Data in the present report show that eczema can be absent, and patients can be of normal height, and of normal intelligence in spite of a head circumference which has so far always fallen below the third percentile. So far 11 patients (8 females and 3 males) are known with the Dubowitz syndrome; in one family the parents were first cousins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00438824
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  • 5
    Electronic Resource
    Electronic Resource
    The Dubowitz syndrome (1971)
    Springer
    European journal of pediatrics 110 (1971), S. 175-187 
    Details
    ISSN: 1432-1076
    Keywords: Intra-uterine Growth Retardation ; Shortness of Stature ; Microcephaly ; Mental Retardation ; Eczema ; Malformation Syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 4 Patienten mit einem bisher unbekannten Symptomenkomplex werden beschrieben. Die Hauptmanifestationen dieses Syndromes sind primärer Zwergwuchs, schwere Mikrocephalie mit erstaunlich leichter Beeinträchtigung der intellektuellen Fähigkeiten und eine charakteristische Physiognomie. 2 unserer Patienten sind Geschwister. Die Schwester eines 1965 von Dubowitz publizierten—und in diese Arbeit einbezogenen—Falles war wahrscheinlich betroffen. Sie starb im Alter von 3 Monaten. Die Eltern aller Kinder sind normal. Wir nehmen an, daß dieses Syndrom recessiv vererbt wird.
    Notes: Abstract This paper reports observations on 4 patients with a newly recognized syndrome called the Dubowitz syndrome. Dubowitz provided some follow-up data on the patient he first described in 1965; in addition 3 personally studied patients are presented. To date the known patients have manifested intrauterine growth retardation (with primordial shortness of stature), microcephaly, variable degrees of eczema and mental retardation, and a characteristic facial appearance. It is presumed that the Dubowitz syndrome is recessively inherited.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440382
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