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Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs.
Am J Med Genet. 1988 Apr; 29(4):837-43.AJ

Abstract

This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed.

Authors+Show Affiliations

da-Silva EO
Instituto Materno-Infantil de Pernambuco (IMIP), Universidade Federal de Pernambuco, Recife, PE, Brazil.

MeSH

Abnormalities, MultipleAgenesis of Corpus CallosumFemaleGenes, RecessiveHumansInfant, NewbornIntellectual DisabilityMaleMicrocephalyTomography, X-Ray Computed

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3400727

Citation

da-Silva, E O.. "Callosal Defect, Microcephaly, Severe Mental Retardation, and Other Anomalies in Three Sibs." American Journal of Medical Genetics, vol. 29, no. 4, 1988, pp. 837-43.
da-Silva EO. Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. Am J Med Genet. 1988;29(4):837-43.
da-Silva, E. O. (1988). Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. American Journal of Medical Genetics, 29(4), 837-43.
da-Silva EO. Callosal Defect, Microcephaly, Severe Mental Retardation, and Other Anomalies in Three Sibs. Am J Med Genet. 1988;29(4):837-43. PubMed PMID: 3400727.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. A1 - da-Silva,E O, PY - 1988/4/1/pubmed PY - 1988/4/1/medline PY - 1988/4/1/entrez SP - 837 EP - 43 JF - American journal of medical genetics JO - Am J Med Genet VL - 29 IS - 4 N2 - This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3400727/Callosal_defect_microcephaly_severe_mental_retardation_and_other_anomalies_in_three_sibs_ DB - PRIME DP - Unbound Medicine ER -