LIMB-PELVIS HYPOPLASIA APLASIA - A DISCRETE ENTITY IN THE FIBULOULNARDEVELOPMENTAL FIELD COMPLEX/

The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most repo rted patients are hom the Middle East, and auto-somal recessive inheri tance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a bab y girl presenting with the phenotypic characterics of LPHA. This is se cond observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hyp oplasia and absence of the the 4th and 5th digital rays. The possible Link between these cases is discussed in the Light of the developmenta l held theory. (C) Wiley-Liss, Inc.