关键词: FATCO syndrome extremities fetal malformations obstetrics ultrasonography

Mesh : Campomelic Dysplasia / diagnosis Female Fibula / abnormalities Fingers / abnormalities Foot Deformities, Congenital / diagnosis Hand Deformities, Congenital / diagnosis Humans Male Pregnancy Prenatal Diagnosis Prognosis Syndactyly / diagnosis Tibia / abnormalities Toes / abnormalities

来  源:   DOI:10.1002/jcu.22969   PDF(Sci-hub)

Abstract:
Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.
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