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Scripta Scientifica Medica

A rare case of campomelic dysplasia: a case report

Emil Kovachev, Boyan Balev, M. Veseli

Abstract

We report an uncommon case of campomelic dysplasia in a24-year-old patient nuliparva, pregnantin 38g.w. with breech presentation, admitted at the Specialized Obstetrics and Gynecology Hospital. The ultrasound Examination visualized Intrauterine Growth Retardation (IUGR) as well as severe angulation and rhizomelic Short ening of the femur and tibia. Those ultrasonography features suggested the presence of campomelic dysplasia. After aplanned Cesarian section, a female baby was delivered, weighing 2250 gr. Thepostnata lX ray was managed and the diagnosis was confirmed without other abnormallites. The genetic testing established normal karyo types of the parents and we suggested the new SOX9 mutation of the baby. No individual Feature is pathognomonic of this condition, however the most typical characteristic sign of campomelic Dysplasiais the marked anterior bowing of the long bones, particularly of the femur and tibia.

Scripta Scientifica Medica 2011;43(2):73-75


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DOI: http://dx.doi.org/10.14748/ssm.v43i2.394
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About The Authors

Emil Kovachev
Medical University of Varna
Bulgaria

Department of Obstetrics and Gynecology

Boyan Balev
Medical University of Varna
Bulgaria

Department of Radiology

M. Veseli
Medical University of Varna
Bulgaria

Department of Obstetrics and Gynecology

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