J Korean Orthop Assoc. 1994 Apr;29(2):440-445. Korean.
Published online Oct 26, 2018.
https://doi.org/10.4055/jkoa.1994.29.2.440
Published online Oct 26, 2018.
https://doi.org/10.4055/jkoa.1994.29.2.440
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
MeSH Terms
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