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Delineation of the da-Silva syndrome.
Am J Med Genet. 1994 Feb 01; 49(3):313-6.AJ

Abstract

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 the da-Silva syndrome.

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Authors+Show Affiliations

Naritomi K
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Tohma T
No affiliation info available
Goya Y
No affiliation info available
Shiroma N
No affiliation info available
Hirayama K
No affiliation info available

MeSH

Abnormalities, MultipleAgenesis of Corpus CallosumChildEar, ExternalGrowth DisordersHumansInfantIntellectual DisabilityMaleMicrocephalyPhenotypeSyndrome

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8209892

Citation

Naritomi, K, et al. "Delineation of the da-Silva Syndrome." American Journal of Medical Genetics, vol. 49, no. 3, 1994, pp. 313-6.
Naritomi K, Tohma T, Goya Y, et al. Delineation of the da-Silva syndrome. Am J Med Genet. 1994;49(3):313-6.
Naritomi, K., Tohma, T., Goya, Y., Shiroma, N., & Hirayama, K. (1994). Delineation of the da-Silva syndrome. American Journal of Medical Genetics, 49(3), 313-6.
Naritomi K, et al. Delineation of the da-Silva Syndrome. Am J Med Genet. 1994 Feb 1;49(3):313-6. PubMed PMID: 8209892.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Delineation of the da-Silva syndrome. AU - Naritomi,K, AU - Tohma,T, AU - Goya,Y, AU - Shiroma,N, AU - Hirayama,K, PY - 1994/2/1/pubmed PY - 1994/2/1/medline PY - 1994/2/1/entrez SP - 313 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 49 IS - 3 N2 - 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 the da-Silva syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8209892/Delineation_of_the_da_Silva_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=49&issue=3&spage=313 DB - PRIME DP - Unbound Medicine ER -