Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata.
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.


METHODS
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.


CONCLUSIONS
Second-trimester prenatal sonographic diagnosis of premature epiphyseal calcifications associated with non-rhizomelic chondrodysplasia punctata is possible.
Sherer
D M
DM
Department of Obstetrics and Gynecology, Strong Memorial Hospital, University of Rochester School of Medicine and Dentistry, New York.
Glantz
J C
JC
Allen
T A
TA
Lonardo
F
F
Metlay
L A
LA
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal