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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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Amniotic band syndrome.A. In this fetus with ABS, focal constriction (arrows) at the ankle has induced swelling of the foot.B. Amniotic bands are seen in the vicinity of the fetal hand (arrow), explaining the presence of focal lymphedema in the distal hand.C. In another fetus with ABS, the left arm is amputated at the mid portion of the humerus (arrows).D. Radiograph of the autopsy specimen in related to figure C confirms amputation below mid-humerus level (arrow).
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Figure 12: Amniotic band syndrome.A. In this fetus with ABS, focal constriction (arrows) at the ankle has induced swelling of the foot.B. Amniotic bands are seen in the vicinity of the fetal hand (arrow), explaining the presence of focal lymphedema in the distal hand.C. In another fetus with ABS, the left arm is amputated at the mid portion of the humerus (arrows).D. Radiograph of the autopsy specimen in related to figure C confirms amputation below mid-humerus level (arrow).

Mentions: Amniotic band syndrome (ABS) is a complex collection of multiple disfiguring and disabling manifestations. It involves a wide spectrum of defects, ranging from minor constriction rings and lymphedema of the digits to major craniofacial and visceral defects. This congenital malformation includes severe and often lethal deformities such as acrania, microcephaly, encephalocele, cleft palate and gastroschisis. The most common triad of clinical manifestations is congenital distal ring constrictions, intrauterine amputations and acrosyndactyly (12). For live births, the reported incidence is 7.7:10,000, though may be as high as 178:10,000 for spontaneous abortions. Early rupture of the amnion is followed by intrauterine entrapment of fetal structures by mesodermal fibrous strands originating from the chorionic side of the amnion. A characteristic feature is the presence of amniotic bands in direct contact with fetal parts whose motion is significantly restricted (Fig. 12) (13). When only restricted fetal movement and characteristic asymmetric fetal anomalies are observed, regardless of the presence or absence of fibrous membranes, the possibility of ABS should be considered.


Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

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

Amniotic band syndrome.A. In this fetus with ABS, focal constriction (arrows) at the ankle has induced swelling of the foot.B. Amniotic bands are seen in the vicinity of the fetal hand (arrow), explaining the presence of focal lymphedema in the distal hand.C. In another fetus with ABS, the left arm is amputated at the mid portion of the humerus (arrows).D. Radiograph of the autopsy specimen in related to figure C confirms amputation below mid-humerus level (arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 12: Amniotic band syndrome.A. In this fetus with ABS, focal constriction (arrows) at the ankle has induced swelling of the foot.B. Amniotic bands are seen in the vicinity of the fetal hand (arrow), explaining the presence of focal lymphedema in the distal hand.C. In another fetus with ABS, the left arm is amputated at the mid portion of the humerus (arrows).D. Radiograph of the autopsy specimen in related to figure C confirms amputation below mid-humerus level (arrow).
Mentions: Amniotic band syndrome (ABS) is a complex collection of multiple disfiguring and disabling manifestations. It involves a wide spectrum of defects, ranging from minor constriction rings and lymphedema of the digits to major craniofacial and visceral defects. This congenital malformation includes severe and often lethal deformities such as acrania, microcephaly, encephalocele, cleft palate and gastroschisis. The most common triad of clinical manifestations is congenital distal ring constrictions, intrauterine amputations and acrosyndactyly (12). For live births, the reported incidence is 7.7:10,000, though may be as high as 178:10,000 for spontaneous abortions. Early rupture of the amnion is followed by intrauterine entrapment of fetal structures by mesodermal fibrous strands originating from the chorionic side of the amnion. A characteristic feature is the presence of amniotic bands in direct contact with fetal parts whose motion is significantly restricted (Fig. 12) (13). When only restricted fetal movement and characteristic asymmetric fetal anomalies are observed, regardless of the presence or absence of fibrous membranes, the possibility of ABS should be considered.

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