Abstract |
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.
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Authors | M Robinow, J Sonek, L Buttino, A Veghte |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 57
Issue 3
Pg. 397-9
(Jul 03 1995)
ISSN: 0148-7299 [Print] United States |
PMID | 7677141
(Publication Type: Journal Article)
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Topics |
- Female
- Femur
(abnormalities, diagnostic imaging)
- Genes, Dominant
- Humans
- Male
- Micrognathism
(diagnostic imaging)
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- Syndrome
- Ultrasonography
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