Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Apert syndrome with fused thalami.

Fetal and pediatric pathology - 1 Dec 2012

Ludwig Kathrin, Salmaso Roberto, Manara Renzo, Cosmi Erich, Baldi Maurizia, Rugge Massimo

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ultrasonography, Prenatal
Share to Receptor, Fibroblast Growth Factor, Type 2
Share to Thalamus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Abnormalities, Multiple

Share to Abortion, Eugenic

Share to Acrocephalosyndactylia

Share to Fatal Outcome

Share to Gestational Age

Source

Identifiers

PMID: 22443264
DOI: 10.3109/15513815.2012.659407

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22443264-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Apert syndrome with fused thalami.PMID 22443264Read ↗

Apert syndrome.Semantic proximity Read ↗

Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia.Semantic proximity Read ↗

Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation.Semantic proximity Read ↗

Atypical presentation of a newborn with Apert syndrome.Semantic proximity Read ↗

[Apert syndrome or acrocephalosyndactilia type I].Semantic proximity Read ↗

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.Semantic proximity Read ↗

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.Semantic proximity Read ↗

Prenatal diagnosis of Apert syndrome.Semantic proximity Read ↗

Apert syndrome with omphalocele: a case report.Semantic proximity Read ↗

Apert syndrome: what prenatal radiographic findings should prompt its consideration?Semantic proximity Read ↗

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.Semantic proximity Read ↗

Acrocephalosyndactyly--type I (Apert's syndrome).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.