Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil.

Abstract

Grebe-Quelce-Salgado chondrodystrophy is an autosomal recessive non-lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1 (CDMP-1). Most cases described in the literature are from Brazil and, among these, all had ancestors from a particular region in the state of Bahia. We describe two cases of Grebe-Quelce-Salgado chondrodystrophy visualized by prenatal ultrasound. The patients presented in this report do not descend from the population of Bahia and, to our knowledge, case two is the only case with prenatal clinical diagnosis in a family with no previously affected children.