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Autosomal recessive inheritance of Nager acrofacial dysostosis.
J Med Genet. 1988 Apr; 25(4):230-2.JM

Abstract

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.

Links

Publisher Full Text
ncbi.nlm.nih.gov
jmg.bmj.com
PMC Free PDF

Authors+Show Affiliations

Chemke J
Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
Mogilner BM
No affiliation info available
Ben-Itzhak I
No affiliation info available
Zurkowski L
No affiliation info available
Ophir D
No affiliation info available

MeSH

FemaleGenes, RecessiveGenetic VariationHumansInfant, NewbornMaleMandibulofacial DysostosisSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3367347

Citation

Chemke, J, et al. "Autosomal Recessive Inheritance of Nager Acrofacial Dysostosis." Journal of Medical Genetics, vol. 25, no. 4, 1988, pp. 230-2.
Chemke J, Mogilner BM, Ben-Itzhak I, et al. Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet. 1988;25(4):230-2.
Chemke, J., Mogilner, B. M., Ben-Itzhak, I., Zurkowski, L., & Ophir, D. (1988). Autosomal recessive inheritance of Nager acrofacial dysostosis. Journal of Medical Genetics, 25(4), 230-2.
Chemke J, et al. Autosomal Recessive Inheritance of Nager Acrofacial Dysostosis. J Med Genet. 1988;25(4):230-2. PubMed PMID: 3367347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive inheritance of Nager acrofacial dysostosis. AU - Chemke,J, AU - Mogilner,B M, AU - Ben-Itzhak,I, AU - Zurkowski,L, AU - Ophir,D, PY - 1988/4/1/pubmed PY - 1988/4/1/medline PY - 1988/4/1/entrez SP - 230 EP - 2 JF - Journal of medical genetics JO - J Med Genet VL - 25 IS - 4 N2 - Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/3367347/Autosomal_recessive_inheritance_of_Nager_acrofacial_dysostosis_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=3367347 DB - PRIME DP - Unbound Medicine ER -