Premium
Prenatal diagnosis of fibular aplasia‐tibial campomelia‐oligosyndactyly syndrome: Two case reports and review of the literature
Author(s) -
Marinho Márcia,
Nunes Sara,
Lourenço Cátia,
Melo Mónica,
Godinho Cristina,
Nogueira Rosete
Publication year - 2020
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22969
Subject(s) - medicine , aplasia , etiology , prenatal diagnosis , fibula , tibia , surgery , prenatal ultrasound , pregnancy , pathology , fetus , biology , genetics
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.