Korean J Radiol.  2003 Dec;4(4):243-251. 10.3348/kjr.2003.4.4.243.

Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies

• Ryu JK
• Cho JY
• Choi JS

• KMID: 1111254
• DOI: http://doi.org/10.3348/kjr.2003.4.4.243

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.

Keyword

Fetus, abnormalities; Fetus, US; Fetus, skeletal system

MeSH Terms

Amniotic Band Syndrome/radiography/*ultrasonography
Fetal Diseases/radiography/*ultrasonography
Human
Infant, Newborn
Limb Deformities, Congenital/radiography/*ultrasonography
Musculoskeletal Abnormalities/radiography/*ultrasonography
Spinal Diseases/radiography/*ultrasonography
*Ultrasonography, Prenatal

Figure

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  Fig. 1 Radial ray abnormality. Second-trimester ultrasound reveals that the forearm consists of only the ulna (arrow), with sharp radial deviation of the hand. The thumb is not well visualized, consistent with radial ray abnormality.

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  Fig. 2 Focal skeletal dysplasia: mesomelia. Fetal sonography performed at week 20 demonstrates the typical finding of mesomelic dysplasia. The forearm (radius and ulnar, arrows) is markedly shortened compared with the humerus.

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  Fig. 3 Polydactyly. A. Prenatal ultrasound reveals that the foot, viewed radially, has an extra digit (preaxial polydactyly) (arrow). B. An extra digit at the ulnar side of hand, viewed axially, suggests postaxial polydactyly (arrow).

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  Fig. 4 Syndactyly. A, B. At prenatal sonography, two digits (arrows) at the ulnar side of a fetal hand are seen to be stuck together. The distal phalanges of these digits are observed as one bony segment (arrowhead).

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  Fig. 5 Clenched hand deformity. At fetal ultrasound, overlapping of the fourth and fifth fingers radially, and the second finger in an ulnar direction, are observed consistently in a fetus with trisomy 18.

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  Fig. 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.

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  Fig. 7 Clinodactyly. Second trimester ultrasound reveals shortening and radial deviation of the middle phalanx of the fifth finger (arrow), a condition frequently associated with karyotype abnormality such as trisomy 21,18 and 13.

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  Fig. 8 Clubfoot. At 22 second weeks' gestation, the forefoot (arrows) is oriented in the same plane as the lower leg.

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

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  Fig. 10 Sandal gap deformity. Plantar view of the foot in a fetus with Down syndrome reveals an abnormal degree of separation between the great toe and the second toe (arrow).

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  Fig. 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).

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  Fig. 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).

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  Fig. 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).

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