Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Rouxel, Flavien; Fauré, Julien; Faure, Jean-Michel; Deschamps, F.; Burlet, G.; Flandrin, A.; Couture, A.; Prodhomme, O.; Rendu, John; Willems, Marjolaine

doi:10.1016/j.heliyon.2022.e12210

Cited by 1 publication

(4 citation statements)

References 12 publications

(10 reference statements)

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“…Six other cases detailing prenatal findings of Lowe Syndrome have been reported in the literature 4 . All have reported bilateral congenital cataracts 4 .…”

Section: Discussionmentioning

confidence: 97%

“…Six other cases detailing prenatal findings of Lowe Syndrome have been reported in the literature. 4 All have reported bilateral congenital cataracts. 4 In the current case, a single cataract was appreciated, which was confirmed on autopsy.…”

Section: Discussionmentioning

confidence: 99%

“…4 All have reported bilateral congenital cataracts. 4 In the current case, a single cataract was appreciated, which was confirmed on autopsy.…”

Section: Discussionmentioning

confidence: 99%

“…Three cases in the literature have documental fetal MRI findings, which include gyral hypoplasia, an enlarged posterior fossa, frontal periventricular cerebral cavity, and a normal fetal MRI in one case [4][5][6]. To our knowledge, no cases have reported fetal mild VM or sagittal clefts of the thoracic and lumbar spine in affected fetuses.…”

mentioning

confidence: 99%

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Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype

Burrill,

Khalek,

Oliver

et al. 2024

Prenatal Diagnosis

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Oculocerebrorenal 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).

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“…Six other cases detailing prenatal findings of Lowe Syndrome have been reported in the literature 4 . All have reported bilateral congenital cataracts 4 .…”

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

“…4 All have reported bilateral congenital cataracts. 4 In the current case, a single cataract was appreciated, which was confirmed on autopsy.…”

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype

Burrill,

Khalek,

Oliver

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Cited by 1 publication

References 12 publications

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype

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