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Article

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance‐Horan syndrome in the extended family

24 Apr 2007

Abstract excerpt

OBJECTIVES: To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). METHODS: The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. RESULTS: Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract,...

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Identifiers

PMID: 17451191
DOI: 10.1002/pd.1734

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Related research

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Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance‐Horan syndrome in the extended familyPMID 17451191Read ↗

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Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.Semantic proximity Read ↗

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