Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome?
In this report we describe severe tetraphocomelia with complete femorotibial fusion in a second trimester male fetus. The association of severe tetraphocomelia-femorotibial synostosis has previously been reported in three patients as examples of a severe variant of the thrombocytopenia-absent radii (TAR) syndrome. In the present fetus no morphological abnormalities of the megakaryocytes were detected. This observation is not in favour of the hypothesis that abnormalities of the primordial megakaryocytes may be causally related with the pathogenesis of the limb malformations as present in this syndrome.
Delooz
J
J
Centre for Human Genetics, University of Leuven, Belgium.
Moerman
P
P
Van den Berghe
K
K
Fryns
J P
JP
D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005269:Femur / Q000002:abnormalities; D006801:Humans; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*; D013977:Tibia / Q000002:abnormalities; D016216:Ultrasonography, Prenatal