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Selective IgG2 subclass deficiency--a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczema.
Ainsworth, S B; Baraitser, M; Mueller, R F; Massey, R F.
Afiliação
  • Ainsworth SB; Department of Paediatrics, Hull Royal Infirmary, UK.
Clin Dysmorphol ; 6(2): 139-46, 1997 Apr.
Article em En | MEDLINE | ID: mdl-9134294
ABSTRACT
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.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Deficiências do Desenvolvimento / Deficiência de IgG / Eczema / Extremidades / Retardo do Crescimento Fetal Limite: Child, preschool / Female / Humans / Infant Idioma: En Revista: Clin Dysmorphol Ano de publicação: 1997 Tipo de documento: Article
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Deficiências do Desenvolvimento / Deficiência de IgG / Eczema / Extremidades / Retardo do Crescimento Fetal Limite: Child, preschool / Female / Humans / Infant Idioma: En Revista: Clin Dysmorphol Ano de publicação: 1997 Tipo de documento: Article