FDH Case Report

Description: Diagnosis Focal dermal hypoplasia (Goltz syndrome). Multiple defects of extremities. Left leg: the rudiment of the foot is attached to fibula ( to the minor shin bone).The big toe grows separately and is attached to the side of tibiax (to the major shin bone).[The girl actually steps on the end of the major shin bone covered with tissues and skin, while the foot is only used for additional balance.] Right leg: hip and shin are shorter than on the other leg, syndactyly of toes. Left arm: 1 cm longer than the other one, olygodactyly, split hand(4 fingers, so-called lobster claw hand); Right arm: syndactyly of second and third fingers, ankylosis of 5th finger, contracture of 3rd and 4th fingers. Spine normal. Microcephalia Multiple vessel net over the body. Eyes: 10% of normal sight. Coloboma horioidea, coloboma of disk of visual nerve, coloboma of iris at 6 o'clock, microophthalmia. The right eye is slightly bigger. Permanent conjunctivitis. Internal organs: double size left kidney, cyst in the area of coccyx.