A 1568-G female infant with facial and lower-extremity abnormalities was delivered by cesarean section because of fetal distress. Her mother had diabetes mellitus since 6 years of age, and her diabetes was poorly controlled during this pregnancy.
Abnormalities noted on physical examination included prominent cheeks, a short nose, long philtrum, thin upper vermillion border of the lip, micrognathia, and low-set ears. A cleft soft palate, marked shortening of both lower extremities, and bilateral talipes equinovarus were also noted. An echocardiogram demonstrated truncus arteriosus.
Denouement and Discussion
Femoral Hypoplasia-Unusual Facies Syndrome
The first report in the pediatric literature describing children with a combination of bilateral femoral hypoplasia and facial dysmorphism including cleft palate, micrognathia, and a long philtrum was published in 1975.1 Additional facial abnormalities associated with this unique syndrome include upslanting palpebral fissures, short nose with a broad nasal tip, and a thin upper lip. Abnormal ear findings
Giacoia GP, Tunnessen WW. Picture of the Month. Arch Pediatr Adolesc Med. 1996;150(7):761-762. doi:10.1001/archpedi.1996.02170320107019