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Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings

Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH - Korean J Radiol (2002 Apr-Jun)

Bottom Line: The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy.Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses.During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.

Affiliation: Department of Radiology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

ABSTRACT

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.

Chondrodysplasia punctata in a 35-week fetus.A, B. Prenatal ultrasonograms depict stippled ossification at the proximal epiphyses (arrows) of the femur and humerus.C. There is no abnormal ossification of the distal epiphysis.D. Postnatal radiograph shows stippled ossifications (open arrows) of the proximal femoral epiphyses.
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Figure 7: Chondrodysplasia punctata in a 35-week fetus.A, B. Prenatal ultrasonograms depict stippled ossification at the proximal epiphyses (arrows) of the femur and humerus.C. There is no abnormal ossification of the distal epiphysis.D. Postnatal radiograph shows stippled ossifications (open arrows) of the proximal femoral epiphyses.

Mentions: Rhizomelic chondrodysplasia punctata is a rare dysplasia characterized by marked shortening and disturbed ossification of the proximal limbs, abnormalities of the vertebral column, eye and skin defects, severe mental retardation, and recurrent infection (18). The prenatal sonographic criteria for diagnosis are pronounced humeral shortening and less marked femoral shortening, without shortening of other long bones, and expanded epiphyses containing multiple hyperechoic foci (19) (Fig. 7). Prenatal radiography may reveal stippling of the long bones and pelvis, and abnormalities of the vertebral bodies. The prognosis is poor, with death usually occurring within the first year of life, though some patients have survived longer (18).

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Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings

Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH - Korean J Radiol (2002 Apr-Jun)

Chondrodysplasia punctata in a 35-week fetus.A, B. Prenatal ultrasonograms depict stippled ossification at the proximal epiphyses (arrows) of the femur and humerus.C. There is no abnormal ossification of the distal epiphysis.D. Postnatal radiograph shows stippled ossifications (open arrows) of the proximal femoral epiphyses.
© Copyright Policy - open-access
Figure 7: Chondrodysplasia punctata in a 35-week fetus.A, B. Prenatal ultrasonograms depict stippled ossification at the proximal epiphyses (arrows) of the femur and humerus.C. There is no abnormal ossification of the distal epiphysis.D. Postnatal radiograph shows stippled ossifications (open arrows) of the proximal femoral epiphyses.
Mentions: Rhizomelic chondrodysplasia punctata is a rare dysplasia characterized by marked shortening and disturbed ossification of the proximal limbs, abnormalities of the vertebral column, eye and skin defects, severe mental retardation, and recurrent infection (18). The prenatal sonographic criteria for diagnosis are pronounced humeral shortening and less marked femoral shortening, without shortening of other long bones, and expanded epiphyses containing multiple hyperechoic foci (19) (Fig. 7). Prenatal radiography may reveal stippling of the long bones and pelvis, and abnormalities of the vertebral bodies. The prognosis is poor, with death usually occurring within the first year of life, though some patients have survived longer (18).

Bottom Line: The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy.Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses.During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.

Affiliation: Department of Radiology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

ABSTRACT

The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article.

View Similar Images In: Results  - Collection
View Article: PubMed Central -  PubMed
Show All Figures - Show MeSH
getmorefigures.php?pmc=2713834&rFormat=json&query=null&req=5