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  • 1
    Electronic Resource
    Electronic Resource
    The oto-onycho-peroneal syndrome (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 317-320 
    Details
    ISSN: 1432-1076
    Keywords: Multiple anomalies ; Dysplasia of the ears ; Anonychia ; Aplasia of the fibula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two male sibs exhibit peculiar dysplasia of the ears, partial aplasia of the nails, and aplasia or hypoplasia of the fibulae. Gross motor development is severely impaired due to contractures of the hip, knee and ankle joints. Minor craniofacial abnormalities and immobility of several interphalangeal joints are also noted in this “new” syndrome which may be due to a rare recessive allele, probably autosomal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442507
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  • 2
    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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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Polysyndaktylie, verkürzte Gliedmaßen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms? (1971)
    Springer
    European journal of pediatrics 111 (1971), S. 118-138 
    Details
    ISSN: 1432-1076
    Keywords: Multiple Malformations ; Cleft Lip ; Polydactyly ; Syndactyly ; Genital Anomalies ; Anomalies of the Extremities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bericht über 4 perinatal verstorbene Neugeborene mit medianer Oberlippenspalte, exzessiver Polysyndaktylie, verkürzten Rippen und Gliedmaßen, Genitalmißbildungen, Anomalien der Epiglottis und Mißbildungen innerer Organe. In der Literaturkasuistik fanden wir 13 gleichartige und 19 ähnliche Fälle, die wahrscheinlich einem eigenen, bisher unerkannten Syndrom zugehörig sind. Dieses Syndrom kann von 12 morphologisch mehr oder minder ähnlichen Syndromen abgegrenzt werden. Die Ätiologie ist unbekannt.
    Notes: Abstract 4 newborn babies dying shortly after birth exhibited severe malformations including median cleft lip, excessive polysyndactyly, short ribs and limbs, genital abnormalities, and anomalies of epiglottis and visceral organs. 13 nearly identical cases were found in the literature. In addition, 19 similar cases have been described. They all probably represent a separate, previously unrecognized syndrome. This peculiar association of congenital malformations can be clearly delineated from 12 syndromes, which share more or less similar features. The etiology is unknown.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00446428
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    Paper (German National Licenses)
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