HEREDITARY LYMPHOPENIC AGAMMAGLOBULINEMIA ASSOCIATED WITH A DISTINCTIVE FORM OF SHORT-LIMBED DWARFISM AND ECTODERMAL DYSPLASIA

Lymphopenic agammaglobulinemia was associated with short-limbed dwarfism and ectodermal dysplasia in a brother and sister. Four similar cases have been reported as sporadic experiences. Our observations, together with these cases, indicate an autosomal recessive transmission and suggest a basic association between skin, bone, and immunologic development. the dwarfism in these children is not, as was previously suggested, characteristic of achondroplasia. One child died of a graft-versus-host reaction following blood transfusion, emphasizing the hazards of transfusion in lymphopenic immunologic disorders. © 1969 The C. V. Mosby Company.