Osteochondrodysplasia Pathologic study of 29 autopsy cases

ABSTRACT

Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).