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

Megalocornea, macrocephaly, mental and motor retardation (MMMM).

Clinical genetics - 1 Aug 1990

Frydman M, Berkenstadt M, Raas-Rothschild A, Goodman R M

Abstract excerpt

Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and swallowing difficulties were present. One patient was obese and the other had scoliosis. Both had large fleshy ears and long fingers. The spectrum of the mental retardation megalocornea syndrome is not fully defined. These two patients resemble a previously reported case, and although there are...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Cornea

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

Share to Intellectual Disability

Share to Karyotyping

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 2208767
DOI: 10.1111/j.1399-0004.1990.tb03564.x

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

Megalocornea, macrocephaly, mental and motor retardation (MMMM).PMID 2208767Read ↗

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.Semantic proximity Read ↗

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and managementSemantic proximity Read ↗

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.Semantic proximity Read ↗

Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.Semantic proximity Read ↗

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.Semantic proximity Read ↗

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.Semantic proximity Read ↗

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

Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: exploring the phenotype.Semantic proximity Read ↗

Macrocephaly SyndromesSemantic proximity Read ↗

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.Semantic proximity Read ↗

FG syndrome: the trias mental retardation, hypotonia and constipation reviewed.Semantic proximity Read ↗

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34Semantic proximity Read ↗

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