Prenatal three-dimensional images of proximal focal femoral deficiency produced by helical computed tomography.
BACKGROUND
Proximal focal femoral deficiency (PFFD) is a rare skeletal disorder characterized by failure in development of the subtrochanteric region of the femoral shaft, with varying degrees of shortening of the proximal femur.


OBJECTIVE
To investigate the potential of helical computed tomography as a prenatal diagnostic tool for bony abnormalities.


METHODS
A 37-year-old Japanese woman was referred to our hospital at 32 weeks of gestation for the evaluation of fetal growth restriction with short femurs. An ultrasound examination revealed the fetus to have short femurs bilaterally with normal echogenicity, and a normal facial profile. Assessment by 3D CT confirmed the absence of the femoral heads bilaterally and also revealed bilateral hip dislocations and oligodactyly of the right hand. The baby was delivered by cesarean section at 37 weeks of gestation, whereupon the diagnosis of PFFD was confirmed.


CONCLUSIONS
Helical CT is a useful prenatal diagnostic alternative for bony abnormalities that is superior to the conventional sonographic approach.
Departments of Gynecology and Obstetrics, Kyushu University, Fukuoka 812-8582, Japan.
Yuka
Y
Otera
Seiichi
S
Morokuma
Yasuo
Y
Yumoto
Satoshi
S
Hojo
Takako
T
Gotoh
Toshiro
T
Hara
Yasuhiro
Y
Ushijima
Yasuharu
Y
Nakashima
Kiyomi
K
Tsukimori
Norio
N
Wake
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology; D006618:Hip Dislocation, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D036542:Tomography, Spiral Computed; D014463:Ultrasonography