Fibular aplasia with ectrodactyly--broadening the clinical spectrum.
Fibular aplasia-ectrodactyly is a rare disorder of the central axis, characterized by shortening of the affected limbs and formation of split hand and/or foot. Here we report on a severely affected case of fibular aplasia with ectrodactyly, in which the upper limb malformations are more pronounced than usually described in sporadic cases.
Gieruszczak-Bialek
D
D
Department of Diabetology, Neonatology and Birth Defects, Warsaw Medical University, Dzialdowska 1, PL-01-184, Warsaw, Poland.
Oldak
M
M
Skorka
A
A
Waligora
J
J
Korniszewski
L
L
D000015:Abnormalities, Multiple / Q000175:diagnosis; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D014034:Toes / Q000002:abnormalities*; D014457:Ulna / Q000002:abnormalities