Dandy-Walker malformation in Ellis-van Creveld syndrome.
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.
Zangwill
K M
KM
Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey, Pennsylvania.
Boal
D K
DK
Ladda
R L
RL
D003616:Dandy-Walker Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D004613:Ellis-Van Creveld Syndrome / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007178:Inbreeding; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography