Natalie Burrill, Nahla Khalek, Edward R Oliver, Rebecca Linn, Teresa Victoria, Carin Yates, Julie S Moldenhauer
Prenatal diagnosis 2024 MayOculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in OCRL at c.2582-1G>C (IVS23-1G>C). © 2024 John Wiley & Sons Ltd.
Natalie Burrill, Nahla Khalek, Edward R Oliver, Rebecca Linn, Teresa Victoria, Carin Yates, Julie S Moldenhauer. Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype. Prenatal diagnosis. 2024 May;44(5):665-668
PMID: 38554254
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