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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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Ectrodactyly (split hands or feet).A. The hand of this fetus has only four fingers, with abnormal widening between the second and third finger (arrows).B. Neonatal photograph demonstrates lobster claw deformity of the hand.
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Figure 6: Ectrodactyly (split hands or feet).A. The hand of this fetus has only four fingers, with abnormal widening between the second and third finger (arrows).B. Neonatal photograph demonstrates lobster claw deformity of the hand.

Mentions: Ectrodactyly is a relatively rare condition involving the absence of digits. It can manifest as the absence of a single finger or, in its severe form, as the absence of all but the fifth digit. Usually, this heterogeneous group of hand and foot malformations is characterized as the split hand/foot deformity due to the absence of the third digit, with clefting into the proximal portion of the hand or foot and syndactyly of the remaining digits on each side of the cleft. The hand typically resembles a lobster claw (Fig. 6). This anomaly occurs either sporadically or in association with a number of genetic and non-genetic syndromes, including the well known autosomal-dominant ectrodactyly syndrome and ectrodactyly-ectodermal dyplasia-cleft palate (EEC) syndrome (8).


Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

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

Ectrodactyly (split hands or feet).A. The hand of this fetus has only four fingers, with abnormal widening between the second and third finger (arrows).B. Neonatal photograph demonstrates lobster claw deformity of the hand.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 6: Ectrodactyly (split hands or feet).A. The hand of this fetus has only four fingers, with abnormal widening between the second and third finger (arrows).B. Neonatal photograph demonstrates lobster claw deformity of the hand.
Mentions: Ectrodactyly is a relatively rare condition involving the absence of digits. It can manifest as the absence of a single finger or, in its severe form, as the absence of all but the fifth digit. Usually, this heterogeneous group of hand and foot malformations is characterized as the split hand/foot deformity due to the absence of the third digit, with clefting into the proximal portion of the hand or foot and syndactyly of the remaining digits on each side of the cleft. The hand typically resembles a lobster claw (Fig. 6). This anomaly occurs either sporadically or in association with a number of genetic and non-genetic syndromes, including the well known autosomal-dominant ectrodactyly syndrome and ectrodactyly-ectodermal dyplasia-cleft palate (EEC) syndrome (8).

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