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‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

15 Feb 1992

Abstract excerpt

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.

Read the complete abstract on PubMed

Topics

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

Share to Folate and B Vitamins Research
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1609830
DOI: 10.1002/ajmg.1320420411

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 · 10 closest

Marden‐Walker‐like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parentsPMID 1609830Read ↗

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

Marden-Walker phenotype: a diagnostic dilemma.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 ↗

Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.Semantic proximity Read ↗

New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.Semantic proximity Read ↗

New case of the Richieri-Costa/Guion-Almeida syndrome.Semantic proximity Read ↗

Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?Semantic proximity Read ↗

Acrocallosal syndrome: report of a Brazilian girl.Semantic proximity Read ↗

Kenny–Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variantSemantic proximity Read ↗

Weill-Marchesani syndrome: report of an unusual case.Semantic proximity Read ↗

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