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  • Articles: DFG German National Licenses  (3)
  • Agenesia of the Tibia  (1)
  • Aplasia of the fibula  (1)
  • Cleft lip and palate  (1)
  • 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
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 115 (1973), S. 235-244 
    ISSN: 1432-1076
    Keywords: Congenital malformations ; Split hand and split foot ; Cleft lip and palate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Familienbeobachtungen des Syndroms EEC (Spalthand/Spaltfuß, ectodermale Dysplasie, Anomalien der Tränenwege und Lippen-Kiefer-Gaumen-Spalte) werden analysiert. Der Erbgang ist autosomal-dominant. Wir berichten über einen neuen Fall.
    Notes: Abstract Familial cases of the EEC syndrome (ectrodactyly, ectodermal dysplasia, anomalies of the lachrymal ducts, cleft lip and palate) are analyzed. Inheritance is autosomal dominant. A new observation is presented.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 111 (1971), S. 38-50 
    ISSN: 1432-1076
    Keywords: Polydactyly ; Agenesia of the Tibia ; Duplication of the Fibula ; Mirror Foot
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Agenesie der Tibia mit beidseitiger Verdoppelung der Fibula und spiegelbildlicher Anordnung von 2×4 dreigliedrigen Zehen wird bei dem Kind einer Frau festgestellt, welche die gleiche Anomalie auf einer Seite, eine prähallukale Polydaktylie bei erhaltener Tibia auf der anderen Seite aufweist. Ein gleicher Fall ist nicht bekannt. Ähnliche Fälle von präaxialer Polydaktylie aus der Literatur mit oder ohne Tibiadefekt, mit oder ohne eine analoge Anomalie der oberen Extremitäten (Doppelung und Triphalangie des Daumens) werden zusammengestellt. Aus ihnen werden 4 Mißbildungstypen gebildet, die durch dominante Gene verusacht zu sein scheinen.
    Notes: Abstract Bilateral agenesia of the tibia, bilateral duplication of the fibula and a “mirror foot” are studied in a child. His mother exhibits the same malformation on one side of the body, prehallucal polydactyly with the tibia, intact on the other side. This case seems to be unique. Similar cases of preaxial polydactyly with or without a defect of the tibia and with or without an analogous anomaly of the upper extremities (duplication and hyperphalangy of the thumb) taken from the literature are classified. 4 different types which could be due to dominant genes are proposed.
    Type of Medium: Electronic Resource
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