title: Apert syndrome with fused thalami.
abstract: Apert syndrome (Acrocephalosyndactyly type I; AS) is a rare but well-known autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, bony/cutaneous syndactyly of fingers and toes as well as a variety of associated congenital anomalies involving the brain, heart, limbs and other organ systems. We report the case of a fetus with molecularly confirmed Apert syndrome and additional fusion of the thalamic nuclei. Various central nervous system anomalies, have been reported in patients with AS. However, as far as we know cases of fused thalami in Apert syndrome have never been reported so far.
authors.affiliation: Pathology Unit, Department of Medical Diagnostic Sciences & Special Therapies, Padova, Italy.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Ludwig
authors.forename: Roberto
authors.initials: R
authors.lastname: Salmaso
authors.forename: Renzo
authors.initials: R
authors.lastname: Manara
authors.forename: Erich
authors.initials: E
authors.lastname: Cosmi
authors.forename: Maurizia
authors.initials: M
authors.lastname: Baldi
authors.forename: Massimo
authors.initials: M
authors.lastname: Rugge
mesh_terms: D000015:Abnormalities, Multiple; D000025:Abortion, Eugenic; D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology*; D000328:Adult; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D009154:Mutation; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D013788:Thalamus / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2