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

Maurizio Genuardi, Paolo Gasparini, Giovanni Neri, Leopoldo Zelante

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)190-194
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume68
Issue number2
DOIs
Publication statusPublished - Jan 20 1997

Keywords

  • autosomal recessive
  • femoral a/hypoplasia
  • FFU complex
  • fibular a/hypoplasia
  • proximal focal femoral deficiency

ASJC Scopus subject areas

  • Genetics(clinical)

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