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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 317-320 
    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
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  • 2
    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
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