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Article

New case of the Richieri-Costa/Guion-Almeida syndrome.

American journal of medical genetics - 23 Apr 1999

Natacci F, Pierri M, Rossetti M, Sala M, Larizza L

Abstract excerpt

We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity.

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Source

Identifiers

PMID: 10232755
DOI: 10.1002/(sici)1096-8628(19990423)83:5<419::aid-ajmg15>3.0.co;2-l

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

New case of the Richieri-Costa/Guion-Almeida syndrome.PMID 10232755Read ↗

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

Richieri‐Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian casesSemantic proximity Read ↗

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

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

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