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

A new syndrome with ptosis, coloboma and mental retardation.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1992

Le Marec B, Odent S, Urvoy M

Abstract excerpt

No abstract is available from the source.

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 Blepharoptosis
Share to Coloboma
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Intellectual Disability

Share to Karyotyping

Source

Identifiers

PMID: 1642810

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

A new syndrome with ptosis, coloboma and mental retardation.PMID 1642810Read ↗

Kindler syndrome with a novel mutation and gynaecological complication.Semantic proximity Read ↗

Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardationSemantic proximity Read ↗

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.Semantic proximity Read ↗

Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?Semantic proximity Read ↗

"New" ectodermal dysplasia with mental retardation and syndactyly.Semantic proximity Read ↗

Growth deficiency, mental retardation and unusual faciesSemantic proximity Read ↗

New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.Semantic proximity Read ↗

Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.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 ↗

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history.Semantic proximity Read ↗

A Child with Severe Developmental Delay and Growth Retardation.Semantic proximity Read ↗

Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome.Semantic proximity Read ↗

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