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Article

Provisional new syndrome of MR/MCA with evolving phenotype.

American journal of medical genetics - 22 Nov 2002

Lacassie Yves, Morava Eva, LaMotta Ivan

Abstract excerpt

We report on a 10-year-old patient with a provisionally new syndrome of MR/MCA with an evolving phenotype. Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with epicanthal folds, telecanthus, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low-set dysplastic ears; asymmetric deformed chest...

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Source

Identifiers

PMID: 12407715
DOI: 10.1002/ajmg.10747

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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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