Achondrogenesis: new nosology with evidence of genetic heterogeneity.

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Abstract
Achondrogenesis is a phenotypically diverse group of lethal osteochondrodysplasias characterized by severe micromelia, a short trunk and a disproportionately large cranium. Cases of classic achondrogenesis Type I (Parenti-Fraccaro), and classic achondrogenesis Type II (Langer-Saldino) were grouped on the basis of clinical, radiologic and histopathologic features. Although further genetic heterogeneity was proposed, broad acceptance was lacking. Review of 79 cases, including examination of available radiographs of familial cases, permitted division into 4 radiographic prototypes. Cases were distinguished on the basis of specific skeletal features as well as a new parameter, the femoral cylinder index (CIfemur). Using these criteria, the afffected siblings in 11 families were found to be concordant for prototype. Identification of radiographic skeletal prototypes of achondrogenesis, and the observation of familial concordance for prototype, suggested the existence of at least 4 genetically distinct disorders, each having autosomal recessive transmission. These observations should provide further impetus for histopathologic and biochemical studies of the defects in achondrogenesis.

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