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

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article

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 language	English
Pages (from-to)	854-856
Number of pages	3
Journal	Journal of Medical Genetics
Volume	34
Issue number	10
Publication status	Published - 1997

Keywords

SCID
Short limbed dwarfism
Spondylo-acrodysplasia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency : A newly recognised immuno-osseous dysplasia. / Castriota-Scanderbeg, Alessandro; Mingarelli, Rita; Caramia, Giuseppe; Osimani, Patrizia; Lachman, Ralph S.; Rimoin, David L.; Wilcox, William R.; Dallapiccola, Bruno.

In: Journal of Medical Genetics, Vol. 34, No. 10, 1997, p. 854-856.

Research output: Contribution to journal › Article

Castriota-Scanderbeg, Alessandro ; Mingarelli, Rita ; Caramia, Giuseppe ; Osimani, Patrizia ; Lachman, Ralph S. ; Rimoin, David L. ; Wilcox, William R. ; Dallapiccola, Bruno. / Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency : A newly recognised immuno-osseous dysplasia. In: Journal of Medical Genetics. 1997 ; Vol. 34, No. 10. pp. 854-856.

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