title: A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.
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.
authors.affiliation: St. James's University Hospital, Department of Clinical Genetics, Leeds, United Kingdom. yanick.crow@leedsth.nhs.uk
authors.forename: Yanick Joseph
authors.initials: YJ
authors.lastname: Crow
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
authors.forename: C
authors.initials: C
authors.lastname: Wright
authors.forename: A M
authors.initials: AM
authors.lastname: Coady
authors.forename: M E
authors.initials: ME
authors.lastname: Conley
authors.forename: A R
authors.initials: AR
authors.lastname: Gennery
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000361:Agammaglobulinemia / Q000473:pathology*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000473:pathology*; D003872:Dermatitis / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities