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July 1996, Vol 150, No. 7 >
Article | July 1996

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George P. Giacoia, MD; Walter W. Tunnessen, MD
Arch Pediatr Adolesc Med. 1996;150(7):761-762. doi:10.1001/archpedi.1996.02170320107019.
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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

REFERENCES

1 +
Daentl DL, Smith DW, Scott Cl, Hall BD, Gooding CA.  Femoral hypoplasia-unusual facies syndrome . J Pediatr . 1975;;86:107-111.
2 +
Pitt DB, Findlay II, Cole WG, Rogers JG.  Case report: femoral hypoplasiaunusual facies syndrome . Aust Pediatr J . 1982;;18:63-66.
3 +
Eastman JR, Escobar V.  Femoral hypoplasia-unusual facies syndrome: a genetic syndrome? Clin Genet . 1978;;13:72-76.
4 +
Johnson JP, Carey JC, Gooch WM, Petersen J, Beattie JF.  Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers . J Pediatr . 1983;:102: 866-872.
5 +
Baraitser M, Reardon W, Oley C, Fixsen J.  Femoral hypoplasia-unusual facies syndrome with preaxial polydactyly . Clin Dysmorphol . 1994;;3:40-45.
6 +
Tadmor OP, Hammerman C, Rabinowitz R, et al.  Femoral hypoplasia-unusual fades syndrome: prenatal ultrasonographic observations . Fetal Diagn Ther . 1993;; 8:279-284.
7 +
Lampert RP.  Dominant inheritance of femoral hypoplasia-unusual facies syndrome . Clin Genet . 1980;;17:255-258.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

1 +
Daentl DL, Smith DW, Scott Cl, Hall BD, Gooding CA.  Femoral hypoplasia-unusual facies syndrome . J Pediatr . 1975;;86:107-111.
2 +
Pitt DB, Findlay II, Cole WG, Rogers JG.  Case report: femoral hypoplasiaunusual facies syndrome . Aust Pediatr J . 1982;;18:63-66.
3 +
Eastman JR, Escobar V.  Femoral hypoplasia-unusual facies syndrome: a genetic syndrome? Clin Genet . 1978;;13:72-76.
4 +
Johnson JP, Carey JC, Gooch WM, Petersen J, Beattie JF.  Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers . J Pediatr . 1983;:102: 866-872.
5 +
Baraitser M, Reardon W, Oley C, Fixsen J.  Femoral hypoplasia-unusual facies syndrome with preaxial polydactyly . Clin Dysmorphol . 1994;;3:40-45.
6 +
Tadmor OP, Hammerman C, Rabinowitz R, et al.  Femoral hypoplasia-unusual fades syndrome: prenatal ultrasonographic observations . Fetal Diagn Ther . 1993;; 8:279-284.
7 +
Lampert RP.  Dominant inheritance of femoral hypoplasia-unusual facies syndrome . Clin Genet . 1980;;17:255-258.

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