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Article

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

American journal of medical genetics - 1 Oct 1993

Richieri-Costa A, Guion-Almeida M L

Abstract excerpt

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.

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Source

Identifiers

PMID: 8266999
DOI: 10.1002/ajmg.1320470523

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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.

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Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.PMID 8266999Read ↗

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

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.Semantic proximity Read ↗

Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype.Semantic proximity Read ↗

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

Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?Semantic proximity Read ↗

The nosology of Richieri-Costa/Guion-Almeida syndrome(s).Semantic proximity Read ↗

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