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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.

Thanatophoric dysplasia in a 21-week fetus.A. Ultrasonogram demonstrates a cloverleaf-like skull.B. Rhizomelic micromelia with bowing of the humerus is apparent (arrows). The skin appears thick because of extreme redundancy.C. The normal abdomen (arrows) is protuberant compared with the small thorax.D. Postmortem radiograph shows generalized severe micromelia and a constricted thorax. Bowing is more apparent in the lower extremities.
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Figure 1: Thanatophoric dysplasia in a 21-week fetus.A. Ultrasonogram demonstrates a cloverleaf-like skull.B. Rhizomelic micromelia with bowing of the humerus is apparent (arrows). The skin appears thick because of extreme redundancy.C. The normal abdomen (arrows) is protuberant compared with the small thorax.D. Postmortem radiograph shows generalized severe micromelia and a constricted thorax. Bowing is more apparent in the lower extremities.

Mentions: The sonographic diagnosis of TD during the second trimester is a straightforward matter. Severe rhizomelic micromelia with bowing is observed, the thorax is narrow and bell shaped, and the ribs are shortened. The normal abdomen is protuberant compared with the small thorax (Fig. 1), and macrocrania, frontal bossing and a depressed nasal bridge are usually present. The skin appears thick because of extreme redundancy, and polyhydramnios occurs in approximately 50% of cases. Holoprosencephaly, agenesis of the corpus callosum, and ventriculomegaly may be associated with cloverleaf deformity, and there may be renal and cardiovascular anomalies (4).

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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)

Thanatophoric dysplasia in a 21-week fetus.A. Ultrasonogram demonstrates a cloverleaf-like skull.B. Rhizomelic micromelia with bowing of the humerus is apparent (arrows). The skin appears thick because of extreme redundancy.C. The normal abdomen (arrows) is protuberant compared with the small thorax.D. Postmortem radiograph shows generalized severe micromelia and a constricted thorax. Bowing is more apparent in the lower extremities.
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Figure 1: Thanatophoric dysplasia in a 21-week fetus.A. Ultrasonogram demonstrates a cloverleaf-like skull.B. Rhizomelic micromelia with bowing of the humerus is apparent (arrows). The skin appears thick because of extreme redundancy.C. The normal abdomen (arrows) is protuberant compared with the small thorax.D. Postmortem radiograph shows generalized severe micromelia and a constricted thorax. Bowing is more apparent in the lower extremities.
Mentions: The sonographic diagnosis of TD during the second trimester is a straightforward matter. Severe rhizomelic micromelia with bowing is observed, the thorax is narrow and bell shaped, and the ribs are shortened. The normal abdomen is protuberant compared with the small thorax (Fig. 1), and macrocrania, frontal bossing and a depressed nasal bridge are usually present. The skin appears thick because of extreme redundancy, and polyhydramnios occurs in approximately 50% of cases. Holoprosencephaly, agenesis of the corpus callosum, and ventriculomegaly may be associated with cloverleaf deformity, and there may be renal and cardiovascular anomalies (4).

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

Background: 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