ABSTRACT
The Angelman syndrome or "happy puppet" syndrome is a disorder of severe mental retardation, seizure, paroxysms of laughter, absent speech, jerky movements and ataxic gait. We present two sibs, man and woman, with this disorder, fact that support the possible autosomal recessive inheritance as a cause of this pathology, which hereditary mechanism is still a controversial point. Besides, we can observe different expression, being the woman more severely affected than the man. To our knowledge, this is the first mexican family reported with this syndrome, and with a ten years follow up. Chromosomal studies, with high resolution technique, were normal, we did not find the 15 chromosomic deletion referred as a possible cause in some cases, that is why it is undeniable that genetic heterogeneity exists in this syndrome.
Subject(s)
Angelman Syndrome/diagnosis , Angelman Syndrome/epidemiology , Angelman Syndrome/genetics , Child , Female , Follow-Up Studies , Humans , Karyotyping , Male , Mexico/epidemiologyABSTRACT
Two cases of non-related patients suffering from Noonan syndrome with characteristic data of the syndrome, had clinical and radiological evidence of very advanced periodontal disease. This disease seems to be unjustified because of the patients age and the lack of irritating local factors or systemic illnesses. A review of the literature showed no evidence of the periodontal disease as part of the syndrome.
