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Article

Delineation of the da-Silva syndrome.

American journal of medical genetics - 1 Feb 1994

Naritomi K, Tohma T, Goya Y, Shiroma N, Hirayama K

Abstract excerpt

We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of...

Topics

Abnormalities, Multiple
Agenesis of Corpus Callosum
Child
Ear, External
Growth Disorders
Humans
Infant
Intellectual Disability
Male
Microcephaly
Phenotype
Syndrome

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Identifiers

PMID: 8209892
DOI: 10.1002/ajmg.1320490314

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8209892-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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