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A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features
Author(s) -
Crow Yanick Joseph,
Goodship J.A.,
Wright C.,
Coady A.M.,
Conley M.E.,
Gennery A.R.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31275
Subject(s) - microcephaly , craniosynostosis , blepharophimosis , medicine , pediatrics , disease , dermatology , pathology , anatomy , surgery , ptosis
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.