Familial postaxial acrofacial dysostosis syndrome.

In this paper, we report a boy with remarkable phenotype and noteworthy radiographic abnormalities. He presented with distinctive facies, mesomelic shortening and asymmetry of the extremities, symmetrical ulnar and fibular ray absence in the hands and feet, with unique hypoplastic/dysplastic radiographic abnormalities. His mental development was normal. We believe that he represents a previously unreported form of the postaxial acrofacial dysostosis syndrome.

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“…Additionally, the radiographic documentation is often insufficient or even absent [4,5,7,8,10,14,16,18,19].…”

Section: Discussionmentioning

confidence: 98%

A variant or a “new” postaxial acrofacial dysostosis syndrome

Sułko¹,

Kotulski²,

Kozlowski

2008

Eur J Pediatr

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A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family—remarks on the mode of inheritance: Report on two sibs

1996

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Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis

Opitz¹,

Mollica²,

Sorge³

et al. 1993

Am. J. Med. Genet.

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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.

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Familial postaxial acrofacial dysostosis syndrome.

Cited by 6 publications

References 5 publications

A variant or a “new” postaxial acrofacial dysostosis syndrome

A variant or a “new” postaxial acrofacial dysostosis syndrome

A new observation of two cases of acrofacial dysostosis type Genée-Wiedemann in a family—remarks on the mode of inheritance: Report on two sibs

Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis

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