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Campomelic dysplasia in one fetus of a twin pregnancy.
A case report
Êondi-Pafiti Á., Papadias K., Êairi-Vassilatou Å., Goula K.,
Kontoyanni K., Filippidou A.
Pathology Dept. and 2nd Clinic of Obstetrics and Gynecology, Areteion-University Hospital, Athens, Greece
A case of campomelic dysplasia in one male fetus of a twin pregnancy is reported. This rare skeletal dysplasia is characterized by shortening and bowing of the extremities and other skeletal, extraskeletal and cartilaginous lesions. These findings characterize a heterogenous group of skeletal disorders that may be sporadic or inherited by the autosomal recessive character, often showing anomalies of sexual development as well. The development of this dysplasia in one of the two fetuses of a twin monochorionic pregnancy is a unique event. Its radiological and pathological characteristics are described.
Key words: Camptomelic dysplasia, osseous dysplasia.
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