Abstract

BORGES, Ana Catarina et al. Prenatal suspicion of Stickler Syndrome without known familial history: a possibility? - Case report. Acta Obstet Ginecol Port [online]. 2024, vol.18, n.1, pp.46-51.  Epub Mar 31, 2024. ISSN 1646-5830.

The Stickler syndrome (SS) is a group of hereditary conditions affecting connective tissue, characterized by orofacial, ocular, skeletal and hearing disabilities. Current literature lacks a detailed prenatal phenotype. A 33-year-old, healthy woman without relevant family history, presented on second trimester ultrasound a fetus with increased nuchal fold, macrophtalmia and micrognathia. The amniocenteses results (PCR to exclude trisomies and arrayCGH) were normal. Subsequent ultrasounds revealed craniofacial edema, micrognathia, flat midface and prominent eyeballs and lips. SS suspicion was raised. Postnatal examination revealed craniofacial dysmorphia, bilateral exophthalmos, retrognathism, glossoptosis and posterior cleft palate with COL11A1 gene deletion, confirming type-2 SS.

Keywords : Stickler Syndrome; Prenatal diagnosis; COL11A1 gene.

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