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Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis).
Gouveia, Inês; Geraldo, Ana Filipa; Godinho, Cristina; Castedo, Sérgio.
  • Gouveia I; Obstetrics and Gynecology, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal inescfmgouveia@gmail.com.
  • Geraldo AF; Diagnostic Neuroradiology Unit, Radiology Department, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal.
  • Godinho C; Obstetrics and Gynecology, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal.
  • Castedo S; Genetics Department of Faculty of Medicine, Universidade do Porto, Porto, Portugal.
BMJ Case Rep ; 16(3)2023 Mar 08.
Article en En | MEDLINE | ID: mdl-36889805
ABSTRACT
We report a case of fetal microcephaly found during the second trimester ultrasound and confirmed by further ultrasound scans and fetal MRI. The array comparative genomic hybridisation analysis of the fetus and the male parent showed a 1.5 Mb deletion overlapping the Feingold syndrome region, an autosomal dominant syndrome that can cause microcephaly, facial/hand abnormalities, mild neurodevelopmental delay and others. This case illustrates the need for a detailed investigation by a multidisciplinary team to provide prenatal counselling regarding a postnatal outcome to the parents and orient their decision towards the continuation or termination of pregnancy.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de las Extremidades / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deformidades Congénitas de las Extremidades / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Año: 2023 Tipo del documento: Article