Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1) ]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5) ]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2) ]; amniotic band syndrome (n=3) ; and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1) ]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) ] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.
Amniotic Band Syndrome/radiography/*ultrasonography ; Fetal Diseases/radiography/*ultrasonography ; Human ; Infant, Newborn ; Limb Deformities, Congenital/radiography/*ultrasonography ; Musculoskeletal Abnormalities/radiography/*ultrasonography ; Spinal Diseases/radiography/*ultrasonography ; *Ultrasonography, Prenatal

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.
Chondrodysplasia Punctata/diagnosis ; Female ; Fetal Diseases/*diagnosis ; Human ; Musculoskeletal Abnormalities/*diagnosis/radiography/ultrasonography ; Osteogenesis Imperfecta/diagnosis ; Pregnancy ; Pregnancy Outcome ; *Prenatal Diagnosis ; Thanatophoric Dysplasia/diagnosis ; *Ultrasonography, Prenatal