A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.
We describe a female infant with a combination of very short stature, severe eczema and IgG deficiency causing recurrent infections in infancy. The radiological features of this condition are presented in the neonatal period, at the age of 5 months and at 2 years and 6 months. We propose that this condition is a previously undescribed type of spondyloepimetaphyseal dysplasia.
D000361:Agammaglobulinemia / Q000473:pathology*; D001827:Body Height; D004485:Eczema / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology*; D013577:Syndrome