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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.
Am J Med Genet. 1993 Oct 01; 47(5):660-78.AJ

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.

Authors+Show Affiliations

Shodair Hospital, Helena, MT 59604.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

8266994

Citation

Opitz, J M., et al. "Acrofacial Dysostoses: Review and Report of a Previously Undescribed Condition: the Autosomal or X-linked Dominant Catania Form of Acrofacial Dysostosis." American Journal of Medical Genetics, vol. 47, no. 5, 1993, pp. 660-78.
Opitz JM, Mollica F, Sorge G, et al. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet. 1993;47(5):660-78.
Opitz, J. M., Mollica, F., Sorge, G., Milana, G., Cimino, G., & Caltabiano, M. (1993). Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. American Journal of Medical Genetics, 47(5), 660-78.
Opitz JM, et al. Acrofacial Dysostoses: Review and Report of a Previously Undescribed Condition: the Autosomal or X-linked Dominant Catania Form of Acrofacial Dysostosis. Am J Med Genet. 1993 Oct 1;47(5):660-78. PubMed PMID: 8266994.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. AU - Opitz,J M, AU - Mollica,F, AU - Sorge,G, AU - Milana,G, AU - Cimino,G, AU - Caltabiano,M, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 660 EP - 78 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 5 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8266994/Acrofacial_dysostoses:_review_and_report_of_a_previously_undescribed_condition:_the_autosomal_or_X_linked_dominant_Catania_form_of_acrofacial_dysostosis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=5&spage=660 DB - PRIME DP - Unbound Medicine ER -