A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features

Yanick Joseph Crow, J. A. Goodship, C. Wright, A. M. Coady, M. E. Conley, A. R. Gennery

    Research output: Contribution to journalArticlepeer-review

    Abstract

    We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents. The disease manifests as agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. The constellation of clinical signs seen in this family likely represents a new and recognizable form of agammaglobulinemia due to a defect in early B-cell maturation. © 2006 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)1131-1135
    Number of pages4
    JournalAmerican Journal of Medical Genetics, Part A
    Volume140
    Issue number11
    DOIs
    Publication statusPublished - 1 Jun 2006

    Keywords

    • Agammaglobulinemia
    • Blepharophimosis
    • Craniosynostosis
    • Dermatitis
    • Microcephaly

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