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Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.
Am J Med Genet. 1996 Jun 28; 63(4):554-7.AJ

Abstract

The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or postaxial limb abnormalities. In 1993, Opitz et al. [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and hypospadias in males. We report a mother and daughter with this same phenotype, confirming this new type of AFD and expanding the clinical phenotype to include frequent dental caries. Analysis of cephalometric and metacarpophalangeal profiles in this family showed no distinctive diagnostic abnormalities. This family confirms the Catania brachydactylous type of AFD and supports an autosomal dominant mode of inheritance, although male-to-male transmission has not been demonstrated.

Authors+Show Affiliations

Department of Pediatrics, University of Maryland School of Medicine, Baltimore, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8826434

Citation

Wulfsberg, E A., et al. "Confirmation of the Catania Brachydactylous Type of Acrofacial Dysostosis: Report of a Second Family." American Journal of Medical Genetics, vol. 63, no. 4, 1996, pp. 554-7.
Wulfsberg EA, Campbell AB, Lurie IW, et al. Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. Am J Med Genet. 1996;63(4):554-7.
Wulfsberg, E. A., Campbell, A. B., Lurie, I. W., & Eanet, K. R. (1996). Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. American Journal of Medical Genetics, 63(4), 554-7.
Wulfsberg EA, et al. Confirmation of the Catania Brachydactylous Type of Acrofacial Dysostosis: Report of a Second Family. Am J Med Genet. 1996 Jun 28;63(4):554-7. PubMed PMID: 8826434.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. AU - Wulfsberg,E A, AU - Campbell,A B, AU - Lurie,I W, AU - Eanet,K R, PY - 1996/6/28/pubmed PY - 2000/6/20/medline PY - 1996/6/28/entrez SP - 554 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 63 IS - 4 N2 - The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or postaxial limb abnormalities. In 1993, Opitz et al. [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and hypospadias in males. We report a mother and daughter with this same phenotype, confirming this new type of AFD and expanding the clinical phenotype to include frequent dental caries. Analysis of cephalometric and metacarpophalangeal profiles in this family showed no distinctive diagnostic abnormalities. This family confirms the Catania brachydactylous type of AFD and supports an autosomal dominant mode of inheritance, although male-to-male transmission has not been demonstrated. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8826434/Confirmation_of_the_Catania_brachydactylous_type_of_acrofacial_dysostosis:_report_of_a_second_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=63&issue=4&spage=554 DB - PRIME DP - Unbound Medicine ER -