Femoral-facial syndrome with hemifacial microsomia and hypoglossia.
We present a boy diagnosed as femoral-facial syndrome with total agenesis of right lower limb, agenesis of femur and fibula of left lower limb and micrognathia, long philtrum as facial features. Some additional features were described as hemifacial microsomia, preauricular tags and hypoglossia.
Düzcan
Füsun
F
Ergin
Hacer
H
Perçin
E Ferda
EF
Tepeli
Emre
E
Erkula
Gürkan
G
D000015:Abnormalities, Multiple; D004480:Ectromelia / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000175:diagnosis*; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome