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  • 1
    Digitale Medien
    Digitale Medien
    The weaver syndrome: A rare type of primordial overgrowth (1981)
    Springer
    European journal of pediatrics 137 (1981), S. 277-282 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Primordial overgrowth ; Macrocephaly ; Accelerated osseous maturation ; Abnormalities of face and skeleton ; Weaver syndrome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature—referred to as Weaver syndrome—exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00443257
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Thanatophoric dysplasia with cloverleaf-skull (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 298-303 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Thanatophoric dysplasia ; Cloverleaf-skull ; Dwarfism, neonatal ; Histomorphology ; Genetics
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The radiologic and morphologic features of thanatophoric dysplasia with cloverleaf-skull could be demonstrated in a neonate who died from asphyxia shortly after birth. Occipital bone hemangiomatosis, a typical histomorphologic finding in cloverleaf-skull, is reported for the first time in a thanatophoric dwarf. Our investigations and the discussion of 26 observations of thanatophoric dysplasia with cloverleaf-skull reported since 1967 do not yet allow complete understanding of the pathogenetic relationship of both malformations. They serve, however, to elucidate some crucial unanswered questions which it is suggested should be studied in future observations of thanatophoric dysplasia with cloverleaf-skull.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00442186
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome? (1983)
    Springer
    Human genetics 〈Berlin〉 65 (1983), S. 125-133 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00286648
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    92. Geburtstraumatische Frakturen und ihre Behandlung (1981)
    Springer
    Langenbeck's archives of surgery 355 (1981), S. 506-506 
    Details
    ISSN: 1435-2451
    Schlagwort(e): Fractures of the newborn ; Geburtstraumatische Frakturen
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Zusammenfassung 162 geburtstraumatische Frakturen, 115 Clavicula-, 18 Femur-, 15 Humerus- und 13 Schädelfrakturen sowie eine Epiphysenlösung wurden zwischen 1950 und 1980 behandelt. Schlüsselbeinbrüche heilen ohne Therapie problemlos aus. Bei Schaftfrakturen der langen Röhrenknochen kann ein Achsenfehler bis 20° toleriert werden. Die frühe Diagnose und Therapie ist bei Epiphysenlösungen besonders wichtig. Eine Therapie der meisten Schädelfrakturen erübrigt sich, lediglich gröbere Impressionen sollten angehoben werden.
    Notizen: Summary From 1950 to 1980 162 fractures of the newborn were treated: 115 of the clavicle, 18 of the femur, 15 of the humerus, 13 of the skull, and 1 fracture of the epiphysis. Fractures of the clavicle require no treatment. An angle of up to 20° in the long axis is acceptable in fractures of the shaft of long bones. It is of utmost importance that epiphyseal fractures be diagnosed and treated early. Most skull fractures require no therapy; however, severe impressions should be corrected.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01286920
    Standort Signatur Einschränkungen Verfügbarkeit
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