LOWE SYNDROME: REPORT OF A CASE AND BRIEF LITERATURE REVIEW (CASE REPORT)

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AMIR HAKIMI GH.H.; FALAHZADEH M.H.; SANEEIFARD H.

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Paper Information

Journal: Iranian Journal of Pediatrics Year:2009 | Volume:19 | Issue:4 Page(s): 417-420

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Information Journal Paper

Title

LOWE SYNDROME: REPORT OF A CASE AND BRIEF LITERATURE REVIEW (CASE REPORT)

Author(s)

AMIR HAKIMI GH.H. | FALAHZADEH M.H. | SANEEIFARD H. | Issue Writer Certificate

Keywords

CATARACTQ2

HYPOTONIAQ3

RENAL TUBULAR ACIDOSISQ3

MENTAL RETARDATIONQ3

SHORT STATUREQ3

OCULOCEREBRORENAL SYNDROMEQ3

Abstract

Background: The OCULOCEREBRORENAL SYNDROME of Lowe (OCRL) is a rare x-linked recessive disorder first described in 1952. This syndrome is characterized by ocular involvement, MENTAL RETARDATION and kidney disease. The causative gene is OCRL1. Survival rarely exceeds 40 years.Case Presentation: A 13-year-old boy was referred because of SHORT STATURE. In physical examination his height was 108.2 cm. He had poor growth, psychomotor retardation, severe HYPOTONIA, congenital CATARACT which was operated on earlier in life, searching nystagmus, anti social behavior and used foul language. He had been on treatment for RENAL TUBULAR ACIDOSIS (Fanconi syndrome) since 8 month of age.Conclusion: The possibility of OCRL should be considered in boys with CATARACTs and glumerolar disease. As the condition can be diagnosed in first months of life, early treatment can prevent patients from various complications.

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APA: Copy

AMIR HAKIMI, GH.H., FALAHZADEH, M.H., & SANEEIFARD, H.. (2009). LOWE SYNDROME: REPORT OF A CASE AND BRIEF LITERATURE REVIEW (CASE REPORT). IRANIAN JOURNAL OF PEDIATRICS, 19(4), 417-420. SID. https://sid.ir/paper/76012/en

Vancouver: Copy

AMIR HAKIMI GH.H., FALAHZADEH M.H., SANEEIFARD H.. LOWE SYNDROME: REPORT OF A CASE AND BRIEF LITERATURE REVIEW (CASE REPORT). IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2009;19(4):417-420. Available from: https://sid.ir/paper/76012/en

IEEE: Copy

GH.H. AMIR HAKIMI, M.H. FALAHZADEH, and H. SANEEIFARD, “LOWE SYNDROME: REPORT OF A CASE AND BRIEF LITERATURE REVIEW (CASE REPORT),” IRANIAN JOURNAL OF PEDIATRICS, vol. 19, no. 4, pp. 417–420, 2009, [Online]. Available: https://sid.ir/paper/76012/en

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