ABSTRACT
PURPOSE--Immunological evaluation of patients with cartilage-hair hypoplasia. TYPE--Prospective and retrospective studies. PLACE--Division of Allergy, Clinical Immunology and Rheumatology-Dept. of Pediatrics-"Escola Paulista de Medicina". PATIENTS--Two children with cartilage-hair hypoplasia syndrome. METHODS--Clinical and immunological evaluation. Humoral immunity (immunoglobulin levels, poliovirus antibodies, etc.) and T cell immunity (in vitro cultured lymphocytes stimulated with PHA, Con A and PWN, total T cell and subset determination) were studied. RESULTS--Cellular immunodeficiency and hypogammaglobulinemia were observed in one patient and normal values in the other. CONCLUSIONS--Immunological evaluation (cellular and humoral) should be performed in all patients with cartilage-hair hypoplasia.
Subject(s)
Humans , Male , Infant , Child , Dwarfism , Hair , Immunologic Deficiency Syndromes/diagnosis , Prospective Studies , Retrospective Studies , Immunity, Cellular , Antibody FormationABSTRACT
Los autores relatan un caso esporádico de síndrome de Williams y citan otros dos; uno de ellos no completamente estudiado que parece tratarse de un síndrome de Williams y otro más complejo que tiene hallazgos faciales del síndrome de Williams, además de retardo mental e hipercalcemia; no se ha conseguido determinar con precisión su cardiopatía, no tiene hipersensibilidad a la vitamina D y presenta hidrocefalia y macrosomía, lo que puede sugerir otro síndrome com hipercalcemia. Se discuten los aspectos etiológicos y patológicos del síndrome referido
Subject(s)
Infant , Child, Preschool , Humans , Male , Aortic Valve Stenosis/congenital , Face , Hypercalcemia , Intellectual Disability , SyndromeABSTRACT
Os autores apresentam um caso com alteraçöes típicas da disostose espôndilo-costal (malformaçäo atingindo a coluna em toda a sua extensäo, sendo toda ela constituída praticamente de hemivértebras e com malformaçäo costal), filho único de pais consangüineos (primos em 2§ grau). Discutem os aspectos etiopatogênicos, a heterogeneidade da doença e as dificuldades do aconselhamento genético