Selective IgG2 subclass deficiency--a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczema.
We report a third family with members displaying pre- and postnatal growth retardation, hypotonia, psychomotor retardation, small puffy hands and feet, dental anomalies and eczematous skin. The four affected members are all females born to unrelated parents consistent with the previously proposed autosomal recessive mode of inheritance. We report a further clinical feature of selective immunoglobulin IgG2 subclass deficiency which would explain some of the clinical findings and might provide an immunological marker for diagnostic confirmation of the syndrome.
Ainsworth
S B
SB
Department of Paediatrics, Hull Royal Infirmary, UK.
Baraitser
M
M
Mueller
R F
RF
Massey
R F
RF
D015415:Biomarkers; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000276:immunology*; D004485:Eczema / Q000276:immunology*; D005121:Extremities / Q000473:pathology*; D005260:Female; D005317:Fetal Growth Retardation / Q000276:immunology*; D006801:Humans; D017099:IgG Deficiency / Q000473:pathology*; D007223:Infant; D014071:Tooth Abnormalities / Q000473:pathology*
D015415:Biomarkers