title: Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature.
abstract: We report on a male newborn with a rarely described congenital limb deficiency syndrome consisting of shortening and anterior bowing of the right lower limb at the distal third of the tibia with associated overlying soft tissue dimpling, oligodactyly of the right foot, and a left-sided oligosyndactyly of the hand. The right hand and left lower limb were clinically normal. Radiographic examination revealed complete absence of the right fibula, absence of the right-sided Vth ray, and anterior bowing and shortening of the right-sided tibia. Femora, humeri, ulnae, and radii were normal. The infant had neither facial dysmorphia nor other associated anomalies. A limb deficiency syndrome comparable to this case has been reported in a female by Hecht and Scott, the only report classified under OMIM 246570 so far. We found two other reports describing three cases comparable to our case and the female reported by Hecht and Scott, and reviewed these cases. The major common findings in all the five cases consist of fibular aplasia, tibial campomelia, and oligosyndactyly. Therefore, we propose to name it fibular aplasia-tibial campomelia-oligosyndactyly (FATCO) syndrome. Additional case reports are needed for further delineation of this rare limb deficiency syndrome.
authors.affiliation: Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium. winnie.courtens@ua.ac.be
authors.forename: Winnie
authors.initials: W
authors.lastname: Courtens
authors.forename: Ann
authors.initials: A
authors.lastname: Jespers
authors.forename: Inge
authors.initials: I
authors.lastname: Harrewijn
authors.forename: Dirk
authors.initials: D
authors.lastname: Puylaert
authors.forename: Filip
authors.initials: F
authors.lastname: Vanhoenacker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005360:Fibula / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities