Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1976 Aug 30;33(3):279-87.
doi: 10.1007/BF00286853.

Heterogeneity of Dyggve-Melchior-Clausen dwarfism

J Spranger, B Bierbaum, J Herrmann
Case Reports

Heterogeneity of Dyggve-Melchior-Clausen dwarfism

J Spranger et al. Hum Genet. .

Abstract

Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.

PubMed Disclaimer

References

    1. Arch Dis Child. 1962 Oct;37(195):525-34 - PubMed
    1. Radiology. 1975 Feb;114(2):415-21 - PubMed
    1. Calif Med. 1958 Jan;88(1):55-9 - PubMed
    1. Clin Chim Acta. 1970 Aug;29(2):197-207 - PubMed
    1. Birth Defects Orig Artic Ser. 1971 Feb;7(1):144-9 - PubMed

Publication types