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  • Articles: DFG German National Licenses  (5)
  • Hemihypertrophy  (3)
  • Progeroid  (2)
  • 1
    Electronic Resource
    Electronic Resource
    Über einige progeroide Krankheitsbilder und deren diagnostische Einordnung (1969)
    Springer
    European journal of pediatrics 107 (1969), S. 91-106 
    Details
    ISSN: 1432-1076
    Keywords: Akrogerie ; Anhidrosis hypotrichotica ; Chalazodermie ; Chalodermie ; Cutis laxa ; Dermatochalasis ; Dyscephalia oculo-mandibulofacialis ; Ektodermale Dysplasie ; Geroderma osteodysplasticum ; Hallermann-Streiff-Syndrom ; Hutchinson-Gilford-Syndrom ; Lipodystrophie ; Progerie ; Progeroid ; Schlaffhaut ; Ullrich-Fremerey-Dohna-Syndrom
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Ausgehend von der Progerie, dem Hutchinson-Gilford-Syndrom, werden zwei eingehend beobachtete, ungewöhnliche progeroide Krankheitsfälle dargestellt und diskutiert. Die grundsätzlich in der Differentialdiagnose der Progerie in Betracht kommenden Affektionen werden aufgeführt. Fall 1 ist ein bis zum Alter von über 25 Jahren verfolgtes Mädchen. Seine diagnostische Einordnung ist schwierig. Am ehesten scheint eine angeborene generalisierte Lipodystrophie angenommen werden zu dürfen. Fall 2 ist ein bis ins 7. Lebensjahr verfolgter Knabe. Hier liegt offenbar ein erweitertes konnatales Schlaffhaut-Syndrom (Dermatochalasis) vor. Beide Beobachtungen werden mit älteren Fällen verglichen. Weiterhin wird die diagnostische Zuordnung einiger in der Literatur beschriebener progeroider Krankheitsfälle kritisch diskutiert.
    Notes: Summary Starting from Progeria (Hutchinson-Gilford-Syndrome) two unusual progeroid cases are described and discussed. Case one is a girl whose case was followed up to the age of just over 25 years. Its diagnostic classification is difficult: A Lipodystrophia generalisata connatalis seems to be most likely. Case two is a boy whose case was followed up to the age of 7 years. In this case an extended connatal Chalodermia syndrome is obviously present. Both observations are compared with other known cases. The diagnostic classification of some progeroid diseases described in the literature is critically discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00440226
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Exomphalos-Makroglossie-Gigantismus-Syndrom, Berardinelli-Seip-Syndrom und Sotos-Syndrom —eine vergleichende Betrachtung unter ausgewählten Aspekten (1973)
    Springer
    European journal of pediatrics 115 (1973), S. 193-207 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF00440359
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The proteus syndrome (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 5-12 
    Details
    ISSN: 1432-1076
    Keywords: Proteus syndrome ; Macrodactyly ; Hemihypertrophy ; Pigmented nevi ; Skull anomalies ; Lipomas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a ‘new’ syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this ‘new’ syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661895
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Congenital hemihypertrophy and malignant giant pheochromocytoma — a previously undescribed coincidence (1976)
    Springer
    European journal of pediatrics 122 (1976), S. 263-273 
    Details
    ISSN: 1432-1076
    Keywords: Hemihypertrophy ; Malignant giant pheochromocytoma ; Neuroectodermal dysplasia syndromes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This is apparently the first report on connatal hemihypertrophy with malignant pheochromocytoma. The coincidence of hemihypertrophy with other diseases, particularly neuroectodermal dysplasias on the one hand and the frequent association of neuroectodermal dysplasias with pheochromocytoma on the other, are emphasized. Furthermore, basically known particularities of this case as malignancy of the tumor, the unusual size of the tumor in children, and the normal catecholamine levels in serum as well as the normal excretion of vanillylmandelic acid are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00481506
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    An unidentified neonatal progeroid syndrome: Follow-up report (1979)
    Springer
    European journal of pediatrics 130 (1979), S. 65-70 
    Details
    ISSN: 1432-1076
    Keywords: Progeroid ; Pseudohydrocephalus ; Natal teeth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two male infants with a pseudo-hydrocephalic progeroid syndrome with natal teeth are compared with two very similar female cases reported in the literature and interpreted as congenital progeria. All these cases may represent a separate entity, a previously unrecognized genetic progeroid syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441901
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    Paper (German National Licenses)
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