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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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Hemivertebra and block vertebra.A, B. Hypoplastic right vertebral body at the low lumbar level results in a focal defect at sagittal (A) and axial (B) scanning (arrow), diagnosed as hemivertebra.C. Oblique coronal prenatal ultrasound scan obtained at the low lumbar level suggests the fusion of two vertebral bodies, leading to an abnormally elongated vertebral column compared with other normal body contours.D. Postnatal plain film of the fetus in Fig. 12C demonstrates block vertebra at the right side between the fourth and fifth lumbar vertebral bodies (arrow).
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Figure 13: Hemivertebra and block vertebra.A, B. Hypoplastic right vertebral body at the low lumbar level results in a focal defect at sagittal (A) and axial (B) scanning (arrow), diagnosed as hemivertebra.C. Oblique coronal prenatal ultrasound scan obtained at the low lumbar level suggests the fusion of two vertebral bodies, leading to an abnormally elongated vertebral column compared with other normal body contours.D. Postnatal plain film of the fetus in Fig. 12C demonstrates block vertebra at the right side between the fourth and fifth lumbar vertebral bodies (arrow).

Mentions: Hemivertebrae or butterfly vertebrae are caused by failure of vertebral segment formation, and can lead to scoliosis and kyphosis. A hemivertebra acts as a wedge within the vertebral column, resulting in curvature away from the side on which it is present. However, when it occurs at the low lumbar to sacral level, deformity is not commonly associated. The prenatal sonographic findings include the asymmetrical appearance of a vertebral body at sagittal or coronal scanning, while axially, a focal defect is seen at either side of the vertebral column (Figs. 13A, B).


Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

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

Hemivertebra and block vertebra.A, B. Hypoplastic right vertebral body at the low lumbar level results in a focal defect at sagittal (A) and axial (B) scanning (arrow), diagnosed as hemivertebra.C. Oblique coronal prenatal ultrasound scan obtained at the low lumbar level suggests the fusion of two vertebral bodies, leading to an abnormally elongated vertebral column compared with other normal body contours.D. Postnatal plain film of the fetus in Fig. 12C demonstrates block vertebra at the right side between the fourth and fifth lumbar vertebral bodies (arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 13: Hemivertebra and block vertebra.A, B. Hypoplastic right vertebral body at the low lumbar level results in a focal defect at sagittal (A) and axial (B) scanning (arrow), diagnosed as hemivertebra.C. Oblique coronal prenatal ultrasound scan obtained at the low lumbar level suggests the fusion of two vertebral bodies, leading to an abnormally elongated vertebral column compared with other normal body contours.D. Postnatal plain film of the fetus in Fig. 12C demonstrates block vertebra at the right side between the fourth and fifth lumbar vertebral bodies (arrow).
Mentions: Hemivertebrae or butterfly vertebrae are caused by failure of vertebral segment formation, and can lead to scoliosis and kyphosis. A hemivertebra acts as a wedge within the vertebral column, resulting in curvature away from the side on which it is present. However, when it occurs at the low lumbar to sacral level, deformity is not commonly associated. The prenatal sonographic findings include the asymmetrical appearance of a vertebral body at sagittal or coronal scanning, while axially, a focal defect is seen at either side of the vertebral column (Figs. 13A, B).

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