A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia

Authors
Slaney, SF Hall, CM Atherton, DJ Winter, RM
Citation
Sf. Slaney et al., A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia, CLIN DYSMOR, 8(2), 1999, pp. 79-85
Citations number
27
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
2
Year of publication
1999
Pages
79 - 85
Database
ISI
SICI code
0962-8827(199904)8:2<79:ANSOSD>2.0.ZU;2-2
Abstract
We describe a female infant with a combination of very short stature, sever e eczema and IgG deficiency causing recurrent infections in infancy. The ra diological 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 c ondition is a previously undescribed type of spondyloepimetaphyseal dysplas ia. Clin Dysmorphol 8: 79-85 (C) 1999 Lippincott Williams & Wilkins.