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Indian J Hum Genet ; 2010 Jan; 16(1): 36-38
Artigo em Inglês | IMSEAR | ID: sea-138895

RESUMO

We herein report the joint occurrence of an autistic disorder (AD) and X-linked hypophosphatemia. X-linked hypophosphatemia (XLH), an X-linked dominant disorder, is the most common of the inherited renal phosphate wasting disorders. Autism is a pervasive developmental disorder that occurs mainly due to genetic causes. In approximately 6-15% of cases, the autistic phenotype is a part of a broader genetic condition called syndromic autism. Therefore, reports of cases with the joint occurrence of a known genetic syndrome and a diagnosis of ASD by a child psychiatrist are relevant. A joint occurrence does not, however, mean that there is always a causal link between the genetic syndrome and the autistic behavioural phenotype. In this case, there are a number of arguments countering a causal link.


Assuntos
Transtorno Autístico/diagnóstico , Transtorno Autístico/etiologia , Transtorno Autístico/genética , Criança , Doenças Genéticas Inatas/diagnóstico , Humanos , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Raquitismo Hipofosfatêmico Familiar/etiologia , Raquitismo Hipofosfatêmico Familiar/genética , Masculino , Síndrome
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