Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance.
Fetal micrognathia and short, bowed femora were found on a routine prenatal ultrasonogram. At birth, a cleft palate and the characteristic facial appearance confirmed the diagnosis of the femoral-facial syndrome. (The femoral-facial syndrome [McKusick 137840] was first delineated by Daentl et al. [1975: J Pediatr 86:197-211] and called the "femoral hypoplasia-unusual facies syndrome." We prefer the "femoral-facial syndrome" because it is shorter, more easily translated, and because the McKusick catalog is the most widely recognized standard of nomenclature.) A paternal great uncle, deceased at age 4 years, seems to have had the same condition.
Robinow
M
M
Children's Medical Center, Wright State University School of Medicine, Dayton, Ohio, USA.
Sonek
J
J
Buttino
L
L
Veghte
A
A
D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000000981:diagnostic imaging*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography