Tadmor O P, Hammerman C, Rabinowitz R, Fisher D, Itzchaki M, Aboulafia Y, Diamant Y Z
Department of Obstetrics, Shaarei Zedek Medical Center, Jerusalem, Israel.
Fetal Diagn Ther. 1993 Jul-Aug;8(4):279-84. doi: 10.1159/000263840.
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.
股骨面发育不全综合征（FH-UFS）是一种罕见的综合征，其特征为双侧股骨发育不全以及面部畸形。据我们所知，这是第一份描述患有FH-UFS的婴儿产前超声检查结果及子宫内生长模式的报告。通过对我们的数据进行分析，似乎在我们的病例中，股骨在妊娠第24周之前生长正常，此时发生了一些子宫内损伤，导致股骨生长暂时停止。从妊娠第34周起，股骨生长速率恢复正常。因此，我们认为FH-UFS的病因是多因素的。只有某些遗传倾向与子宫内损伤（可能是病毒感染）相结合，才能解释在同一胎儿中出现的腭裂（在妊娠第7周发育）以及特定时间（25 - 32周）的股骨生长紊乱。
