J Korean Orthop Assoc. 1994 Apr;29(2):440-445. Korean.
Published online Oct 26, 2018.
Copyright © by The Korean Orthopaedic Association
Case Report

Lowe's syndrome in a female child: A case report

Sung Keun Sohn, Sung Soo Kim and Bum Ho Jung

    Abstract

    Lowe et al. have described a disease characterized by organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation, this disease is now called as Lowe's syndrome or oculo-cerebro-renal syndrome which manifests growth plates, metabolic acidosis, and characteristic eye changes, including bilateral cataract, glaucoma and nystagmus. It is a congenital hereditary affectation. Most of the patients with this syndrome are male sex. We report a new case of Lowe's syndrome in a 5-year old girl.

    Keywords
    Lowe's syndrome


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