title: Short limbed skeletal dysplasia associated with combined immunodeficiency and congenital subglottic stenosis: a new constellation of features.
abstract: A newborn male is described with an association of short limbed dwarfism with hip dislocation, combined immunodeficiency characterized by absent B cells and CD4 lymphopaenia and congenital subglottic stenosis. This constellation of abnormalities is distinct from other described skeletal dysplasias associated with immunodeficiency such as ADA deficiency and cartilage hair hypoplasia.
authors.affiliation: Department of Paediatrics, The Royal London Hospital, Whitechapel, UK.
authors.forename: A V
authors.initials: AV
authors.lastname: Ramanan
authors.forename: K
authors.initials: K
authors.lastname: Hussain
authors.forename: M
authors.initials: M
authors.lastname: Hird
authors.forename: H B
authors.initials: HB
authors.lastname: Gaspar
mesh_terms: D018791:CD4 Lymphocyte Count; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology*; D007231:Infant, Newborn; D007621:Karyotyping; D007829:Laryngostenosis / Q000235:genetics / Q000473:pathology*; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D011859:Radiography