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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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Curly toe.A, B. Prenatal sonography indicates that the fourth toe (arrow) deviates medially and plantarly (A, axial scan; B, coronal scan).C. Neonatal photograph confirms the presence of a congenital underlapping fourth toe (arrow).
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Figure 11: Curly toe.A, B. Prenatal sonography indicates that the fourth toe (arrow) deviates medially and plantarly (A, axial scan; B, coronal scan).C. Neonatal photograph confirms the presence of a congenital underlapping fourth toe (arrow).

Mentions: This is a common deformity, often involving the fourth and fifth toes. One or more toes are bent plantaward, deviated medially, and usually rotated laterally at the distal interphalangeal joint level (11). The prenatal sonographic finings are mild shortening of the fourth or fifth toe, as viewed axially, together with medial and plantar deviation of this same toe when the foot is viewed in the coronal plane (Fig. 11). The condition usually occurs bilaterally and symmetrically, and there is a high familial incidence. Associated or chromosomal anomalies have not yet been reported. The cause is unknown, but hypoplasia of the intrinsic muscles of the affected toe has been suggested. If the deformity is mild and asymptomatic, no treatment is necessary; however, if symptomatic, and conservative treatment fails, then surgery is indicated (11).


Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

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

Curly toe.A, B. Prenatal sonography indicates that the fourth toe (arrow) deviates medially and plantarly (A, axial scan; B, coronal scan).C. Neonatal photograph confirms the presence of a congenital underlapping fourth toe (arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 11: Curly toe.A, B. Prenatal sonography indicates that the fourth toe (arrow) deviates medially and plantarly (A, axial scan; B, coronal scan).C. Neonatal photograph confirms the presence of a congenital underlapping fourth toe (arrow).
Mentions: This is a common deformity, often involving the fourth and fifth toes. One or more toes are bent plantaward, deviated medially, and usually rotated laterally at the distal interphalangeal joint level (11). The prenatal sonographic finings are mild shortening of the fourth or fifth toe, as viewed axially, together with medial and plantar deviation of this same toe when the foot is viewed in the coronal plane (Fig. 11). The condition usually occurs bilaterally and symmetrically, and there is a high familial incidence. Associated or chromosomal anomalies have not yet been reported. The cause is unknown, but hypoplasia of the intrinsic muscles of the affected toe has been suggested. If the deformity is mild and asymptomatic, no treatment is necessary; however, if symptomatic, and conservative treatment fails, then surgery is indicated (11).

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