Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata
Sherer, D.M.; Glantz, J.C.; Allen, T.A.; Lonardo, F.; Metlay, L.A.
Obstetrics and Gynecology 83(5 Part 2): 858-860
1994
ISSN/ISBN: 0029-7844 PMID: 8159377 Document Number: 430693
Chondrodysplasia punctata is a rare heterogeneous group of bone dysplasias occurring with an incidence of one in 100,000 live births. Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome) has previously been reported only following detection of overall limb shortening. Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic chondrodysplasia punctata, led to second-trimester prenatal sonographic diagnosis of this condition. Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic chondrodysplasia punctata is possible.