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

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.

American journal of medical genetics. Part A - 15 Sept 2003

Wattanasirichaigoon Duangrurdee, Prasad Chitra, Schneider Gretchen, Evans Jane A, Korf Bruce R

Abstract excerpt

Rib anomalies may occur in isolation, as well as in association with abnormalities of vertebral segmentation and multi-system malformations. Specific entities include the VACTERL and MURCS associations, spondylocostal dysostosis, and spondylothoracic dysostosis. The relative significance of rib anomalies in other lesser known syndromes and associations remains unclear. To document the diagnoses and related...

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 Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Radiography

Source

Identifiers

PMID: 12949975
DOI: 10.1002/ajmg.a.20241

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.PMID 12949975Read ↗

Jarcho‐Levin syndrome: Four new cases and classification of subtypesSemantic proximity Read ↗

Controversies surrounding Jarcho-Levin syndrome.Semantic proximity Read ↗

Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literatureSemantic proximity Read ↗

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.Semantic proximity Read ↗

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

Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.Semantic proximity Read ↗

Congenital Bilateral and Multifocal Mesenchymal hamartoma of the chest wall: A Case in a Neonate and Differential DiagnosisSemantic proximity Read ↗

Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.Semantic proximity Read ↗

[Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome].Semantic proximity Read ↗

Imaging of Congenital Skeletal Disorders.Semantic proximity Read ↗

Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.Semantic proximity Read ↗

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.Semantic proximity Read ↗

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