Sindrome Femoro-Facciale Femoral-Facial Syndrome OMIM 134780

Sindrome Femoro-Facciale   Femoral-Facial Syndrome   OMIM 134780

E' una malattia genetica rara caratterizzata da nanismo, palatoschisi e facies peculiare.  Il nanismo è dovuto ad ipoplasia ed incurvamento bilaterale e simmetrico del femore; il femore può essere ipoplasico o assente. La facies è caratteristica: naso corto, radice del naso allargata, micrognatia, palatoschisi, labbro superiore sottile, orecchie allungate ed inclinate posteriormente. Si osserva anche piede torto.

La diagnosi ecografica si basa su:
1) ipoplasia/aplasia femore
2) palatoschisi
3) naso corto
4) micrognatia
5) piede torto

Bibliografia

Burck, U., Riebel, T., Held, K. R., Stoeckenius, M. Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis and foot deformities. Helv. Paediat. Acta 36: 473-482, 1981.
Burn, J., Winter, R. M., Baraitser, M., Hall, C. M., Fixsen, J. The femoral hypoplasia-unusual facies syndrome. J. Med. Genet. 21: 331-340, 1984.
Daentl, D. L., Smith, D. W., Scott, C. I., Hall, B. D., Gooding, C. A. Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111, 1975.
Gleiser, S., Weaver, D. D., Escobar, V., Nichols, G., Escobedo, M. Femoral hypoplasia--unusual facies syndrome, from another viewpoint. Europ. J. Pediat. 128: 1-5, 1978.
Hurst, D., Johnson, D. F. Femoral hypoplasia--unusual facies syndrome. Am. J. Med. Genet. 5: 255-258, 1980.
Kelly, T. E. Proximal focal femoral deficiency (familial). Birth Defects Orig. Art. Ser. X(12): 508-509, 1974.
Lampert, R. P. Dominant inheritance of femoral hypoplasia--unusual facies syndrome. Clin. Genet. 17: 255-258, 1980.
Nowaczyk, M. J., Huggins, M. J., Fleming, A., Mohide, P. T. Femoral-facial syndrome: prenatal diagnosis and clinical features. Report of three cases. Am. J. Med. Genet. 152A: 2029-2033, 2010.
Robinow, M., Sonek, J., Buttino, L., Veghte, A. Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance. Am. J. Med. Genet. 57: 397-399, 1995.