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An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.
Clin Genet. 1989 Dec; 36(6):451-55.CG

Abstract

In this report we describe an apparently new MCA-MR syndrome with Dandy-Walker malformation in three severely mentally retarded siblings born to normal, non-consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger-nails.

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Authors+Show Affiliations

Buttiens M
Centre for Human Genetics, University of Leuven, Belgium.
Fryns JP
No affiliation info available
van den Berghe H
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildDandy-Walker SyndromeFacial BonesFemaleGenes, RecessiveHumansHydrocephalusIntellectual DisabilityMaleMyopiaSkullTomography, X-Ray Computed

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2591071

Citation

Buttiens, M, et al. "An Apparently New Autosomal Recessive Syndrome With Facial Dysmorphism, Macrocephaly, Myopia and Dandy-Walker Malformation." Clinical Genetics, vol. 36, no. 6, 1989, pp. 451-55.
Buttiens M, Fryns JP, van den Berghe H. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. Clin Genet. 1989;36(6):451-55.
Buttiens, M., Fryns, J. P., & van den Berghe, H. (1989). An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. Clinical Genetics, 36(6), 451-55.
Buttiens M, Fryns JP, van den Berghe H. An Apparently New Autosomal Recessive Syndrome With Facial Dysmorphism, Macrocephaly, Myopia and Dandy-Walker Malformation. Clin Genet. 1989;36(6):451-55. PubMed PMID: 2591071.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. AU - Buttiens,M, AU - Fryns,J P, AU - van den Berghe,H, PY - 1989/12/1/pubmed PY - 1989/12/1/medline PY - 1989/12/1/entrez SP - 451 EP - 55 JF - Clinical genetics JO - Clin Genet VL - 36 IS - 6 N2 - In this report we describe an apparently new MCA-MR syndrome with Dandy-Walker malformation in three severely mentally retarded siblings born to normal, non-consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger-nails. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/2591071/An_apparently_new_autosomal_recessive_syndrome_with_facial_dysmorphism_macrocephaly_myopia_and_Dandy_Walker_malformation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1989&volume=36&issue=6&spage=451 DB - PRIME DP - Unbound Medicine ER -