Osservazione sulla trasmissione ereditaria della sindrome di Ellis-Van Creveld

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Abstract
Two personal observations are presented, the former including a pedigree showing both on the maternal and paternal side isolated symptoms of the Ellis-van Creveld syndrome, and the latter consisting in an affected child ensued from a consanguineous marriage, his parents being first cousins. The cases of the literature in which the hereditary component is evident (28 in 49) are also examined. The most significant data from a genetic standpoint are discussed, i. e. the presence of isolated symptoms in the families of the patients, the consanguinity in the parents, the presence of the syndrome in different members of the same sibship. As a conclusion the recessive inheritance, through an autosomal polyphenic gene, is confirmed.

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