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Parental consanguinity and the Majewski syndrome.
J Med Genet. 1982 Apr; 19(2):141-3.JM

Abstract

We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further support to this hypothesis, as the infant was born to consanguineous parents.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7077625

Citation

Black, I L., et al. "Parental Consanguinity and the Majewski Syndrome." Journal of Medical Genetics, vol. 19, no. 2, 1982, pp. 141-3.
Black IL, Fitzsimmons J, Fitzsimmons E, et al. Parental consanguinity and the Majewski syndrome. J Med Genet. 1982;19(2):141-3.
Black, I. L., Fitzsimmons, J., Fitzsimmons, E., & Thomas, A. J. (1982). Parental consanguinity and the Majewski syndrome. Journal of Medical Genetics, 19(2), 141-3.
Black IL, et al. Parental Consanguinity and the Majewski Syndrome. J Med Genet. 1982;19(2):141-3. PubMed PMID: 7077625.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Parental consanguinity and the Majewski syndrome. AU - Black,I L, AU - Fitzsimmons,J, AU - Fitzsimmons,E, AU - Thomas,A J, PY - 1982/4/1/pubmed PY - 1982/4/1/medline PY - 1982/4/1/entrez SP - 141 EP - 3 JF - Journal of medical genetics JO - J Med Genet VL - 19 IS - 2 N2 - We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further support to this hypothesis, as the infant was born to consanguineous parents. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/7077625/Parental_consanguinity_and_the_Majewski_syndrome_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=7077625 DB - PRIME DP - Unbound Medicine ER -