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Sherer David M. MD; Glantz, Christopher J. MD; Allen, Tamara A. BS, RDMS; Lonardo, Fulvio MD; Metlay, Leon A. MD
Obstetrics & Gynecology: May 1994
Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata: PDF Only

Background: 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.

Case: Multiple sonographic skeletal findings of premature epiphyseal calcifications, other unusual calcifications, kyphoscoliosis, and asymmetrical limb shortening, typical of non-rhizomelic chondrodysplasia punctata, led to secondtrimester prenatal sonographic diagnosis of this condition.

Conclusion: Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic chondrodysplasia punctata is possible.(Obstet Gynecol 1994;83:858-60)

© 1994 The American College of Obstetricians and Gynecologists