Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex

Am J Med Genet. 1997 Jan 20;68(2):190-4. doi: 10.1002/(sici)1096-8628(19970120)68:2<190::aid-ajmg14>;2-p.


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 reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Female
  • Foot / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Italy
  • Leg / diagnostic imaging
  • Limb Deformities, Congenital*
  • Male
  • Pedigree
  • Pelvis / abnormalities*
  • Radiography