Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction.
We report a case of chondrodysplasia punctata tibia-metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia.
Miyazaki
Osamu
O
Department of Radiology, National Centre for Child Health and Development, 2-10-1 Okura, Seatagaya-ku, Tokyo, 157-8535, Japan. osamu-m@rc4.so-net.ne.jp
Nishimura
Gen
G
Sago
Haruhiko
H
Watanabe
Noriyoshi
N
Ebina
Shunsuke
S
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000151:congenital* / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D050279:Metacarpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011857:Radiographic Image Interpretation, Computer-Assisted / Q000379:methods*; D014057:Tomography, X-Ray Computed / Q000379:methods*