Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis
Identifieur interne : 00CF82 ( Main/Exploration ); précédent : 00CF81; suivant : 00CF83Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis
Auteurs : John M. Opitz [États-Unis] ; Florindo Mollica [États-Unis] ; Giovanni Sorge [Italie] ; Gabriella Milana [États-Unis] ; Gabriella Cimino [Italie] ; Mario Caltabiano [Italie]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1993-10-01.
Abstract
The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée‐Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well‐documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri‐Costa et al., and the AD Patterson–Stevenson–Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X‐linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons. © 1993 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.1320470517
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The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée‐Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well‐documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri‐Costa et al., and the AD Patterson–Stevenson–Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X‐linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons. © 1993 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Italie</li><li>États-Unis</li></country><region><li>Montana</li></region></list><tree><country name="États-Unis"><region name="Montana"><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></region><name sortKey="Milana, Gabriella" sort="Milana, Gabriella" uniqKey="Milana G" first="Gabriella" last="Milana">Gabriella Milana</name><name sortKey="Mollica, Florindo" sort="Mollica, Florindo" uniqKey="Mollica F" first="Florindo" last="Mollica">Florindo Mollica</name></country><country name="Italie"><noRegion><name sortKey="Sorge, Giovanni" sort="Sorge, Giovanni" uniqKey="Sorge G" first="Giovanni" last="Sorge">Giovanni Sorge</name></noRegion><name sortKey="Caltabiano, Mario" sort="Caltabiano, Mario" uniqKey="Caltabiano M" first="Mario" last="Caltabiano">Mario Caltabiano</name><name sortKey="Cimino, Gabriella" sort="Cimino, Gabriella" uniqKey="Cimino G" first="Gabriella" last="Cimino">Gabriella Cimino</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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