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

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.

American journal of medical genetics - 1 Oct 1993

Happle R, Daniëls O, Koopman R J

Abstract excerpt

Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabecu...

Topics

Abnormalities, Multiple
Corneal Opacity
Female
Focal Dermal Hypoplasia
Genetic Linkage
Humans
Infant
Microphthalmos
Phenotype
Skin Abnormalities
Syndrome
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8267001
DOI: 10.1002/ajmg.1320470525

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8267001-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.PMID 8267001Read ↗

Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea).Semantic proximity Read ↗

Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22Semantic proximity Read ↗

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.Semantic proximity Read ↗

Newly recognized blepharofacioskeletal syndrome.Semantic proximity Read ↗

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.Semantic proximity Read ↗

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Semantic proximity Read ↗

A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).Semantic proximity Read ↗

Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.Semantic proximity Read ↗

Three cases of focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

[Focal dermal hypoplasia (Goltz syndrome) in the neonate: report of a case presenting with cleft lip and palate].Semantic proximity Read ↗

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.Semantic proximity Read ↗

[Holt-Oram syndrome associated with facial anomalies. A case report].Semantic proximity Read ↗

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