Ellis-van Creveld (EVC2) syndrome has been first described in children and is a complex clinical syndrome
that presents with short limbs, retarded growth, polydactyly, ectodermal and heart defects and
ciliopathies. This syndrome is due to a mutation of EVC2 gene (1). The aim of this study was to describe the
gross and histological features of bovine chondrodysplastic dwarfism (CD) with deletion of EVC2 gene.
Four calves (3 female and one male) aged 2 to 5 months, with a clinical diagnosis of CD, were subjected to
necropsy. The same cases were included in a whole genomic re-sequencing study that confirmed the
deletion of the EVC2 gene (2). Bones, ligaments, heart and genital tract were routinely processed. Sections
were stained with H&E.
At necropsy, the limbs of all the subjects were disproportionately short and bulky, rotated and arched in a
\u201cdumbbell-like\u201d position. The long bones were severely reduced in length, with a very short diaphysis. In
the 3 female calves, despite the young age, the genital tract was fully developed. In one case endocardiosis
of the atrioventricular valves was observed. Histologically, the growth plates were irregular and closed
prematurely. The reserve zone was variably thickened at the expense of proliferative and hypertrophic
zones. Chondrocytes in the latter zones were disorganized, had multifocal loss of normal columnar
arrangement, and were haphazardly arranged individually or in nests. The metaphysis was reduced in
length, and the trabeculae in the primary spongiosa were shortened. Ovaries had follicles and corpora
lutea; ligaments occasionally had multifocal lymphoplasmacytic inflammation.
CD due to an autosomal recessive mutation of the Limbin gene was described for the first time in the
Japanese brown breed (3). A genetic study on inherited chondrodysplasia due to EVC2 deletion was
recently reported in Tyrolean grey cattle (2), and now we describe the pathological aspects of EVC2 in this
breed. As in humans, where EVC2 involves multiple organs, one of our cases showed endocardiosis. No
genital lesions have been reported so far in human EVC2. EVC2 syndrome in Tyrolean Grey cattle is
characterized by CD, genital and heart defects and could be a useful model for human medicine.
1. Kamal et al., J Oral Maxillofac Pathol. 2013, 17:132-5.
2. Murgiano et al., Plos one 2014, In press
3. Takeda et al., Proc Natl Acad Sci U S A. 2002, 6;99:10549-54
ANATOMIA PATOLOGICA
Calf , EVC2 syndrome , chondrodysplasi
