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Nager acrofacial dysostosis: evidence for apparent heterogeneity.
Am J Med Genet. 1988 Jul; 30(3):741-6.AJ

Abstract

Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression.

Authors+Show Affiliations

Lilly Research Laboratories, Eli Lilly and Co., Indianapolis, Indiana 46285.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3189396

Citation

Goldstein, D J., and L D. Mirkin. "Nager Acrofacial Dysostosis: Evidence for Apparent Heterogeneity." American Journal of Medical Genetics, vol. 30, no. 3, 1988, pp. 741-6.
Goldstein DJ, Mirkin LD. Nager acrofacial dysostosis: evidence for apparent heterogeneity. Am J Med Genet. 1988;30(3):741-6.
Goldstein, D. J., & Mirkin, L. D. (1988). Nager acrofacial dysostosis: evidence for apparent heterogeneity. American Journal of Medical Genetics, 30(3), 741-6.
Goldstein DJ, Mirkin LD. Nager Acrofacial Dysostosis: Evidence for Apparent Heterogeneity. Am J Med Genet. 1988;30(3):741-6. PubMed PMID: 3189396.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nager acrofacial dysostosis: evidence for apparent heterogeneity. AU - Goldstein,D J, AU - Mirkin,L D, PY - 1988/7/1/pubmed PY - 1988/7/1/medline PY - 1988/7/1/entrez SP - 741 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 30 IS - 3 N2 - Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3189396/Nager_acrofacial_dysostosis:_evidence_for_apparent_heterogeneity_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=30&issue=3&spage=741 DB - PRIME DP - Unbound Medicine ER -
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