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July 1996

Picture of the Month

Author Affiliations

From the Division of Neonatology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Tulsa (Dr Giacoia), and the American Board of Pediatrics, Chapel Hill, NC (Dr Tunnessen).

Arch Pediatr Adolesc Med. 1996;150(7):761-762. doi:10.1001/archpedi.1996.02170320107019

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 

MANIFESTATIONS  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