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Dandy-Walker malformation in Ellis-van Creveld syndrome.
Am J Med Genet. 1988 Sep; 31(1):123-9.AJ

Abstract

We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded.

Authors+Show Affiliations

Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey, Pennsylvania.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3223493

Citation

Zangwill, K M., et al. "Dandy-Walker Malformation in Ellis-van Creveld Syndrome." American Journal of Medical Genetics, vol. 31, no. 1, 1988, pp. 123-9.
Zangwill KM, Boal DK, Ladda RL. Dandy-Walker malformation in Ellis-van Creveld syndrome. Am J Med Genet. 1988;31(1):123-9.
Zangwill, K. M., Boal, D. K., & Ladda, R. L. (1988). Dandy-Walker malformation in Ellis-van Creveld syndrome. American Journal of Medical Genetics, 31(1), 123-9.
Zangwill KM, Boal DK, Ladda RL. Dandy-Walker Malformation in Ellis-van Creveld Syndrome. Am J Med Genet. 1988;31(1):123-9. PubMed PMID: 3223493.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dandy-Walker malformation in Ellis-van Creveld syndrome. AU - Zangwill,K M, AU - Boal,D K, AU - Ladda,R L, PY - 1988/9/1/pubmed PY - 1988/9/1/medline PY - 1988/9/1/entrez SP - 123 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 31 IS - 1 N2 - We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3223493/Dandy_Walker_malformation_in_Ellis_van_Creveld_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=31&issue=1&spage=123 DB - PRIME DP - Unbound Medicine ER -