title: Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).
abstract: Prenatal diagnosis of thanatophoric dysplasia (TD) type II presenting in the first trimester with increased nuchal translucency (NT) and cloverleaf skull (Kleeblattschaedel) have been scantly reported in the medical record. Abnormal choroid plexus has been seen in association with fetal anomalies. Here we described a case of increased NT associated with indented choroid plexuses, early onset hydrocephalus and cloverleaf skull in a fetus subsequently diagnosed at early second trimester to carry a de novo mutation encoding for TD type II. The findings of dysmorphic choroid plexus, early onset hydrocephalus and cloverleaf skull at first trimester scan may be early, useful ultrasound markers of TD type II. Molecular analysis to control for possible overlapping syndromes were performed and resulted negative. Postmortem X-ray and 3D-CT scan confirmed the cloverleaf skull, narrow thorax, straight femur with rhizomelic shortening of the limbs and the presence of a communicating hydrocephalus.
authors: Department of Obstetrics & Gynecology, AUSL Reggio Emilia, Guastalla, Italy.
authors: Gabriele
authors: G
authors: Tonni
authors: Marcella
authors: M
authors: Palmisano
authors: Vladimiro
authors: V
authors: Ginocchi
authors: Alessandro
authors: A
authors: Ventura
authors: Maurizia
authors: M
authors: Baldi
authors: Ave Maria
authors: AM
authors: Baffico
mesh_terms: D000328:Adult; D002831:Choroid Plexus / Q000000981:diagnostic imaging* / Q000473:pathology; D003398:Craniosynostoses / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D005333:Fetus; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D013796:Thanatophoric Dysplasia / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal
keywords: cloverleaf skull; dysmorphic choroid plexus; hydrocephalus; molecular biology analysis; thanatophoric dysplasia type II