Severe hypoplasia of the right femur, ipsilateral agenesia of the fibula and twisted right foot in a 24-week-old fetus with proximal femoral focal deficiency (PFFD).
A case of a 24-week-old fetus of non consanguineous parents with an ultrasonographic diagnosis of a short right femur, ipsilateral agenesia of the fibula and a twisted right foot is described. Cordocentesis revealed a normal 46XY karyotype. The parents were informed on treatment options and after psychological counselling they decided to undergo an abortion. Post mortem examination confirmed the diagnosis of a severe right limb malformation.
2nd Institute Obstetrics and Gynaecology, University "La Sapienza", Rome, Italy.
R
R
La Torre
M
M
Mastrone
F
F
Coacci
L
L
Labi
E
E
Palma
M
M
Di Giusto
A
A
Patella
E V
EV
Cosmi
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007870:Leg Length Inequality / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal