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Acrofacial dysostosis with ambiguous genitalia.
Am J Med Genet. 1990 Nov; 37(3):384-7.AJ

Abstract

We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.

Authors+Show Affiliations

Medical Genetics/Dysmorphology, National Naval Medical Center, Bethesda, Maryland 20814.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2260569

Citation

Wulfsberg, E A., et al. "Acrofacial Dysostosis With Ambiguous Genitalia." American Journal of Medical Genetics, vol. 37, no. 3, 1990, pp. 384-7.
Wulfsberg EA, Curtis J, Wiswell TE, et al. Acrofacial dysostosis with ambiguous genitalia. Am J Med Genet. 1990;37(3):384-7.
Wulfsberg, E. A., Curtis, J., Wiswell, T. E., Puntel, R. A., & Levin, S. W. (1990). Acrofacial dysostosis with ambiguous genitalia. American Journal of Medical Genetics, 37(3), 384-7.
Wulfsberg EA, et al. Acrofacial Dysostosis With Ambiguous Genitalia. Am J Med Genet. 1990;37(3):384-7. PubMed PMID: 2260569.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acrofacial dysostosis with ambiguous genitalia. AU - Wulfsberg,E A, AU - Curtis,J, AU - Wiswell,T E, AU - Puntel,R A, AU - Levin,S W, PY - 1990/11/1/pubmed PY - 1990/11/1/medline PY - 1990/11/1/entrez SP - 384 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 37 IS - 3 N2 - We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2260569/Acrofacial_dysostosis_with_ambiguous_genitalia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=37&issue=3&spage=384 DB - PRIME DP - Unbound Medicine ER -