Bifurcation of the femur with tibial agenesis and additional anomalies.
Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop-Wolfgang Complex and the tibial agenesis-ectrodactyly syndrome. We report on two patients with bifurcation of the femur and tibial agenesis. Hand ectrodactyly was seen in one of these patients. Both patients had unusual additional anomalies. The first patient had in addition proximal focal femoral deficiency, the other patient had a tracheo-esophageal fistula and pyloric stenosis. Clinical and genetic aspects are discussed.
van de Kamp
J M
JM
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. jm.vandekamp@vumc.nl
van der Smagt
J J
JJ
Bos
C F A
CF
van Haeringen
A
A
Hogendoorn
P C W
PC
Breuning
M H
MH
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005269:Femur / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D011707:Pyloric Stenosis / Q000473:pathology; D013977:Tibia / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000473:pathology