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Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

Ryu JK, Cho JY, Choi JS - Korean J Radiol (2003 Oct-Dec)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Diagnostic Radiology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. radjycho@skku.edu

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.

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Radial ray abnormality.Second-trimester ultrasound reveals that the forearm consists of only the ulna (arrow), with sharp radial deviation of the hand. The thumb is not well visualized, consistent with radial ray abnormality.
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Figure 1: Radial ray abnormality.Second-trimester ultrasound reveals that the forearm consists of only the ulna (arrow), with sharp radial deviation of the hand. The thumb is not well visualized, consistent with radial ray abnormality.

Mentions: A prenatal diagnosis of radial ray hypoplasia should be based on ultrasound findings of severe shortening or absence of the radius, absence of the thumb, and abnormal posture of the hand (sharp radial deviation) (Fig. 1). Sonographic evaluation of fetal limb bones is sometimes difficult due to forearm posture (pronation or supination) and abnormal amniotic fluid volume. If there are many severe associated defects involving, for example, the heart, central nervous system, kidneys or abdominal wall, visualization of the ulnar and radius should not even be attempted.


Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

Ryu JK, Cho JY, Choi JS - Korean J Radiol (2003 Oct-Dec)

Radial ray abnormality.Second-trimester ultrasound reveals that the forearm consists of only the ulna (arrow), with sharp radial deviation of the hand. The thumb is not well visualized, consistent with radial ray abnormality.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2698103&req=5

Figure 1: Radial ray abnormality.Second-trimester ultrasound reveals that the forearm consists of only the ulna (arrow), with sharp radial deviation of the hand. The thumb is not well visualized, consistent with radial ray abnormality.
Mentions: A prenatal diagnosis of radial ray hypoplasia should be based on ultrasound findings of severe shortening or absence of the radius, absence of the thumb, and abnormal posture of the hand (sharp radial deviation) (Fig. 1). Sonographic evaluation of fetal limb bones is sometimes difficult due to forearm posture (pronation or supination) and abnormal amniotic fluid volume. If there are many severe associated defects involving, for example, the heart, central nervous system, kidneys or abdominal wall, visualization of the ulnar and radius should not even be attempted.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Diagnostic Radiology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. radjycho@skku.edu

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.

Show MeSH
Related in: MedlinePlus