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- DOI: 10.1002/ajmg.a.31275
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A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.
Crow YJ, Goodship J, Wright C, Coady A, Conley M, Gennery A
Am J Med Genet A. 2006;140( 11):1131-5.
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Full-text held externally
- DOI: 10.1002/ajmg.a.31275
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. Copyright 2006 Wiley-Liss, Inc.
Keyword(s)
Child, Preschool; Family Health; Fatal Outcome; Female; Fetal Death; Gestational Age; Humans; Infant; Male; Syndrome; abnormalities: Fingers; abnormalities: Toes; genetics: Abnormalities, Multiple; genetics: Genes, Recessive; pathology: Agammaglobulinemia; pathology: Craniosynostoses; pathology: Dermatitis; pathology: Microcephaly