Das Gehörorgan Bei Den Angeborenen Kopfmissbildungen

The Nager syndrome

“…The Nager syndrome is characterized by facial abnormalities similar to those seen in the Treacher Collins syndrome and by limb abnormalities [Nager and de Reyner, 1948;VatrC, 19711. Although most cases of the Nager syndrome have been sporadic, autosomal dominant inheritance was suggested in 2 reports [Lowry, 1977;Weinbaum et al, 19811.…”

“…The Nager syndrome is an acro-facial disorder first described as a variant of the Treacher Collins syndrome, but subsequently as a separate disorder [Nager and de Reyner, 1948;VatrC, 197 11. Most cases have been sporadic, but both autosomal dominant [Lowry, 1977;Weinbaum et al, 19811 and recessive [Neidhart, 1968;Walker, 1974;Burton and Nadler, 1977;Pfeiffer and Stoess, 19831 inheritance have been suggested. The Nager syndrome was identified in a newborn infant and in a subsequent sib by prenatal ultrasonography confirming that at least some cases represent an autosomal recessive trait.…”

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies

“…From the description of the specimens it becomes clear that Gerardus and especially Willem Vrolik were familiar with several nowadays well-known MCA syndromes that did not become established as such until years later. These are acrofacial dysostosis [Nager and De Reynier, 1948], Apert syndrome [Apert, 1906], Brachmann-De Lange syndrome [Brachmann, 1916;De Lange, 1933], ichthyosis congenita gravis [Riecke, 1900], OFD syndrome IV [Goldstein and Medina, 1974], Smith-Lemli-Opitz syndrome [Smith et al, 1964], Treacher Collins syndrome [Treacher Collins, 1900], and possibly also trisomy 13 [Patau et al, 1960].…”

Acrofacial dysostoses

“…Nevertheless, the descriptions that are given tend to confer a systematic character to individual entities that is not always confirmed by careful reading of the reports (Table I). For instance, if the principal malformations of the Nager syndrome [Klein et al, 19701 are mandibulofacial dysostosis and radial defects, other malformations have also been observed upper limbs: clinodactyly or hypoplasia of the 5th finger [Meyerson et al, 19771, syndactyly, double thumb (the equivalent of aplasia or triphalangia) [ Giugliani and Pereira, 1984;Temtamy and McKusick, 19781, incurved, sometimes hypoplastic, ulna; lower limbs: limited movement of the knee and clinodactyly of the toes [Meyerson et al, 19771, dislocated hip [Klein et al, 1970;Pfeiffer and Stoess, 19831, abnormal big toes, and clubfeet [Pfeiffer and Stoess, 1983;Lowry, 1977;Schonenberg, 1968;Jones, 1968;Bowen and Harley, 1974;Halal et al, 19831; Bowen and Harley [1974]; Burton and Nadler [1977]; Fernandez and Ronis [1964]; Gellis and Feingold 119781;Giugliani and Pereira [1984]; Halal et al 119831;Hecht et al [1987]; Jones 119681; Klein et al [1970]; Krauss et al 119851;Lowry [1977];Marden et al 119641;Meyerson et al 119771;Neidhart [1968]; Nager and de Reynier [1948]; Pfeiffer [1969]; Pfeiffer and Stoess [1983]; Richieri-Costa et al [1983]; Shonenberg et al [1968]; Temtamy and McKusick 119781;Vatre [1971]; Walker [1974]; Weinbaum et al [1981]; personal case.…”