A PROVISIONALLY UNIQUE SYNDROME WITH FEATURES INCLUDING "MOLAR TOOTH" SIGN AND "FEMORAL HYPOPLASIA"

作者：Caglayan A O^*; Gumus H; Yikilmaz A; Gumus G O; Per H

来源：Genetic Counseling, 2009, 20(4): 359-365.

• Femoral-facial syndrome
• Dandy-Walker Malformation
• Molar Tooth Sign

A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia": The femoral-facial syndrome (FH-UFS) is a rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and peculiar facies. We describe a new case with facial dysmorphism, broad chest and widely spaced nipples, shorter right lower limb with femoral hypoplasia and unilateral fibular hemimelia, bilateral absence of 5(th) metatarsal and toe, and bilateral talipes equinovarus. In addition, a complete agenesis of corpus callosum, cerebellar vermis hypoplasia with molar tooth sign and Dandy-Walker malformation were present. Posterior fossa abnormalities in FH-UFS have not been described in the literature until now, thus extending the clinical spectrum of this entity. Other syndromes characterized by femoral hypoplasia and/or molar tooth sign are also discussed.

• 出版日期2009