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

Marden-Walker phenotype: spectrum of variability in three infants.

American journal of medical genetics - 1 Feb 1993

Ramer J C, Frankel C A, Ladda R L

Abstract excerpt

The physical, radiographic, and pathologic findings in 3 new patients with Marden-Walker syndrome (MWS) are compared with those of previously described children with the syndrome. Over 75% of the children with MWS have blepharophimosis, psychomotor retardation, small mouth, micrognathia, kyphosis/scoliosis, and multiple contractures. Minimal diagnostic criteria have yet to be defined attesting to the broad range...

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 Child, Preschool
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 7679543
DOI: 10.1002/ajmg.1320450302

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Marden-Walker phenotype: spectrum of variability in three infants.PMID 7679543Read ↗

Marden-Walker phenotype: a diagnostic dilemma.Semantic proximity Read ↗

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.Semantic proximity Read ↗

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.Semantic proximity Read ↗

Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.Semantic proximity Read ↗

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.Semantic proximity Read ↗

Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature.Semantic proximity Read ↗

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineationSemantic proximity Read ↗

Spondyloenchondrodysplasia: several phenotypes--the same syndrome.Semantic proximity Read ↗

Variability in kyphomelic dysplasia.Semantic proximity Read ↗

On the variability of the Brachmann-de Lange syndrome in seven patients.Semantic proximity Read ↗

Phenotypic variability in Meckel-Gruber syndrome.Semantic proximity Read ↗

Floating-Harbor syndrome: case report and craniofacial phenotype characterization.Semantic proximity Read ↗

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