Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature.

Autor: Marinho M; Department of Obstetrics and Gynecology, Centro Hospitalar Vila Nova de Gaia, Porto, Portugal., Nunes S; Department of Obstetrics and Gynecology, Centro Hospitalar de Vila Real e Trás-os- Montes e Alto Douro, Vila Real, Portugal., Lourenço C; Department of Obstetrics and Gynecology, Centro Hospitalar Vila Nova de Gaia, Porto, Portugal., Melo M; Department of Obstetrics and Gynecology, Centro Hospitalar Vila Nova de Gaia, Porto, Portugal., Godinho C; Department of Obstetrics and Gynecology, Centro Hospitalar Vila Nova de Gaia, Porto, Portugal., Nogueira R; Pathology Laboratory of CGC Genetics/Centro de Genética Clínica, Porto, Portugal.; Medical School, University of Minho, and ICVS/3B's-PT Government Associate Laboratory, Guimarães, Portugal.
Jazyk: angličtina
Zdroj: Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2021 Jul; Vol. 49 (6), pp. 625-629. Date of Electronic Publication: 2020 Dec 16.
DOI: 10.1002/jcu.22969
Abstrakt: 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.
(© 2020 Wiley Periodicals LLC.)
Databáze: MEDLINE
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