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LOWE SENDROMLU BİR OLGUNUN DAVRANIŞ FENOTİPİNE YAKLAŞIM

Journal Name:

  • Cerrahpaşa Tıp Dergisi

Publication Year:

  • 1998

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system anomalies and renal dysfunction. The stubborness, temper tantrums and complex repetitive movements (stereotypy) are seen frequently in these patients. Whether these behavior patterns simply reflect the multiple disabilities found in some developmentally impaired irıdividuals with or without Lowe syndrome or is a specific genetically - determined behavioral phenotype of Lowe syndrome is unknown. Observation.- In this paper a 12-year old male patient with Lowe syndrome has been described with behavioral anomalies like stubborness, temper tantrums and stereotypic behaviours.
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Abstract (Original Language): 
Lowe sendromu, (okuloserebrorenal sendrom) göz, sinir sistemi ve böbrekleri tutan, nadir görülen X'e bağlı resesif bir hastalıktır. Bu hastalarda inatçılık, hırçınlık, huysuzluk ve kompleks tekrarlayıcı hareketler (Stereotipi) oldukça sık görülmektedir. Bu davranışların, Lowe sendromu olsun veya olmasın gelişme geriliği olan bireylerin fenotipini mi, yoksa Lowe sendromuna özgü bir davranışı mı yansıttığı bilinmemektedir. Bu makalede Lowe sendromu tanısı konulan 12 yaşındaki erkek hastamızda izlenen inatçılık, huysuzluk gibi davranış bozuklukları değerlendirildi.
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  • 1
43-46
  • Turkish

REFERENCES

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