Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: A newly recognised immuno-osseous dysplasia

Alessandro Castriota-Scanderbeg, Rita Mingarelli, Giuseppe Caramia, Patrizia Osimani, Ralph S. Lachman, David L. Rimoin, William R. Wilcox, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.

Original languageEnglish
Pages (from-to)854-856
Number of pages3
JournalJournal of Medical Genetics
Volume34
Issue number10
Publication statusPublished - 1997

Keywords

  • SCID
  • Short limbed dwarfism
  • Spondylo-acrodysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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