Femoral hypoplasia--unusual facies syndrome: prenatal ultrasonographic observations.
FH-UFS is a rare syndrome characterized by bilateral femoral hypoplasia, together with facial dysmorphism. To the best of our knowledge, this is the first report describing prenatal ultrasonographic findings and in utero growth pattern of an infant with FH-UFS. Via analysis of our data it appears that the growth of the femur in our case was normal until the 24th week of pregnancy, at which time some in-utero insult occurred, resulting in temporarily arrested femoral growth. From the 34th week of pregnancy onward femoral growth rates returned to normal. We assume, therefore, that the etiology of FH-UFS is multifactorial. Only a combination of some hereditary proclivity, together with an intrauterine insult (possibly viral) could explain the appearance in the same fetus of cleft palate, developing at the 7th week of gestation, and a time-specific (25-32 weeks) disturbance of femoral growth.
Tadmor
O P
OP
Department of Obstetrics, Shaarei Zedek Medical Center, Jerusalem, Israel.
Hammerman
C
C
Rabinowitz
R
R
Fisher
D
D
Itzchaki
M
M
Aboulafia
Y
Y
Diamant
Y Z
YZ
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D002971:Cleft Lip / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000000981:diagnostic imaging; D003025:Clubfoot / Q000000981:diagnostic imaging; D003456:Cryptorchidism / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal