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

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.

American journal of medical genetics. Part A - 1 Mar 2018

Tamai Kei, Tada Katsuhiko, Takeuchi Akihito, Nakamura Makoto, Marunaka Hidenori, Washio Yosuke, Tanaka Hiroyuki, Miya Fuyuki, Okamoto Nobuhiko, Kageyama Misao

Abstract excerpt

Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Bone Diseases, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebral Cortex

Share to Cleft Palate

Share to Microcephaly

Share to Osteosclerosis

Share to Tomography, X-Ray Computed

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 29341424
DOI: 10.1002/ajmg.a.38598

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.PMID 29341424Read ↗

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.Semantic proximity Read ↗

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.Semantic proximity Read ↗

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.Semantic proximity Read ↗

Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

A case of Raine syndrome presenting with facial dysmorphy and review of literature.Semantic proximity Read ↗

Report of a case of Raine syndrome and literature review.Semantic proximity Read ↗

Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic ApproachSemantic proximity Read ↗

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.Semantic proximity Read ↗

Fetal hydrops, hyperechogenic arteries and pathological doppler findings at 29 weeks: prenatal presentation of generalized arterial calcification of infancy - a novel mutation in ENPP1.Semantic proximity Read ↗

Prenatal diagnosis of generalized arterial calcification of infancy in the second trimesterSemantic proximity Read ↗

Specific ultrasonographic features of perinatal lethal hypophosphatasia.Semantic proximity Read ↗

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