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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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Rockerbottom foot.Prenatal ultrasound demonstrates eversion of the plantar arch (arrows).
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Figure 9: Rockerbottom foot.Prenatal ultrasound demonstrates eversion of the plantar arch (arrows).

Mentions: A "rockerbottom" foot is due to a deformed talus and calcaneus, the talus having assumed a vertical position on account of plantar flexion. Externally, eversion of the plantar arch, i.e. a convex plantar surface is observed, together with posterior bulging of the calcaneus (Fig. 9)(9). Sonographically, this convexity plus protrusion behind the posterior calf line of the heel can be observed. A rockerbottom foot is most often associated with karyotype abnormality, particularly trisomy 13. It may also occur as an isolated anomaly; together with a caudal dysplasia sequence, neural tube defects, or neuromuscular disorders; or as part of the Potter sequence (3).


Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

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

Rockerbottom foot.Prenatal ultrasound demonstrates eversion of the plantar arch (arrows).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 9: Rockerbottom foot.Prenatal ultrasound demonstrates eversion of the plantar arch (arrows).
Mentions: A "rockerbottom" foot is due to a deformed talus and calcaneus, the talus having assumed a vertical position on account of plantar flexion. Externally, eversion of the plantar arch, i.e. a convex plantar surface is observed, together with posterior bulging of the calcaneus (Fig. 9)(9). Sonographically, this convexity plus protrusion behind the posterior calf line of the heel can be observed. A rockerbottom foot is most often associated with karyotype abnormality, particularly trisomy 13. It may also occur as an isolated anomaly; together with a caudal dysplasia sequence, neural tube defects, or neuromuscular disorders; or as part of the Potter sequence (3).

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