A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.
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.
Crow
Yanick Joseph
YJ
St. James's University Hospital, Department of Clinical Genetics, Leeds, United Kingdom. yanick.crow@leedsth.nhs.uk
Goodship
J A
JA
Wright
C
C
Coady
A M
AM
Conley
M E
ME
Gennery
A R
AR
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