Short limbed skeletal dysplasia associated with combined immunodeficiency and congenital subglottic stenosis: a new constellation of features

A newborn male is described with an association of short limbed dwarfism wi th hip dislocation, combined immunodeficiency characterized by absent B cel ls and CD4 lymphopaenia and congenital subglottic stenosis. This constellat ion of abnormalities is distinct from other described skeletal dysplasias a ssociated with immunodeficiency such as ADA deficiency and cartilage hair h ypoplasia. Clin Dysmorphol 9: 173-176 (C) 2000 Lippincott Williams & Wilkin s.