Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital
ocular abnormalities, mental retardation, renal disease, and metabolic bone disease. We …

Discussion Our patient conforms to the clinical and biochemical phenotype of the"
oculocerebrorenal syndrome." Since they were first described [1-3], ocular abnormalities …

Two patients with oculocerebrorenal syndrome are described. Both had abnormal findings
on electroencephalography and developed seizure episodes. Although Patient 2 manifested …

SciELO - Brasil - Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings
in the first six years of life Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging …

FOUR fatal cases of the oculo-cerebrorenal syndrome are described. These are first
reported from Northern Ireland. All 4 patients were male. Three belong to one family …

The clinical, anatomical and biochemical variations in this disease are well demonstrated in
the family here described. The transmission of the syndrome in this family seems to be by …

Background. The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose
clinical manifestations include congenital cataracts, mental retardation, and renal tubular …

Discussion Patients with Lowe (oculocerebrorenal) syndrome have bilateral congenital
cataracts, glaucoma, hypotonia, severe psychomotor retardation, seizures, and disturbances …

Neurologic features of oculocerebrorenal (Lowe) syndrome include mental retardation,
hypotonia, and areflexia. We performed a sural nerve biopsy, computerized tomography …

Background Oculocerebrorenal syndrome is an X-linked recessive hereditary
oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and …