title: Prenatal sonographic diagnosis of focal musculoskeletal anomalies.
abstract: 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.
authors.affiliation: Department of Diagnostic Radiology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. radjycho@skku.edu
authors.forename: Jung Kyu
authors.initials: JK
authors.lastname: Ryu
authors.forename: Jeong Yeon
authors.initials: JY
authors.lastname: Cho
authors.forename: Jong Sun
authors.initials: JS
authors.lastname: Choi
mesh_terms: D000652:Amniotic Band Syndrome / Q000000981:diagnostic imaging*; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging*; D011859:Radiography; D013122:Spinal Diseases / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal