title: Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise?
abstract: We describe the case of a 37-week-old, small-for-gestational-age, white baby girl born with Baller-Gerold syndrome (BGS), with craniosynostosis and partial absence of the corpus callosum, absent radius, and syndactyly. She died at 2 months of age because of overwhelming sepsis that appeared to be due to an underlying humoral immunodeficiency. Unexpected sudden death has been reported in patients with BGS, but there has been no previous documentation of immunodeficiency. We suggest that a basic immunologic and hematologic workup should be part of the standard of care of all patients affected with BGS or related syndromes.
authors.affiliation: Department of Pediatrics, State University of New York at Stony Brook, 11794-8111, USA.
authors.forename: S G
authors.initials: SG
authors.lastname: Golombek
authors.forename: L T
authors.initials: LT
authors.lastname: Clement
authors.forename: M
authors.initials: M
authors.lastname: Begleiter
authors.forename: W E
authors.initials: WE
authors.lastname: Truog
mesh_terms: D003398:Craniosynostoses; D017809:Fatal Outcome; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000097:blood; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D007136:Immunoglobulins