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

Lookup NU author(s): Professor Judith Goodship, Dr Christopher Wright, Professor Andrew GenneryORCiD

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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.

Publication metadata

Author(s): Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics Part A

Year: 2006

Volume: 140

Issue: 11

Pages: 1131-1135

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/ajmg.a.31275

DOI: 10.1002/ajmg.a.31275

PubMed id: 16691627

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