Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome of a variant of DiGeorge syndrome

Marguerite Shepard, S. K. Linman, A. Cavazos

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

The authors present sibs who exhibit some features of the DiGeorge syndrome. However, they differ from the previously reported cases because of the growth retardation and intrauterine death. All of the DiGeorge cases have been sporadic and it has been suggested that the etiology is teratogenic. This could be an example of the DiGeorge phenotype that is possibly genetic in origin.

Original languageEnglish (US)
Pages (from-to)123-125
Number of pages3
JournalBirth Defects: Original Article Series
Volume12
Issue number6
StatePublished - 1976
Externally publishedYes

Fingerprint

DiGeorge Syndrome
Fetal Death
Fetal Growth Retardation
Phenotype
Thymic aplasia

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

Cite this

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abstract = "The authors present sibs who exhibit some features of the DiGeorge syndrome. However, they differ from the previously reported cases because of the growth retardation and intrauterine death. All of the DiGeorge cases have been sporadic and it has been suggested that the etiology is teratogenic. This could be an example of the DiGeorge phenotype that is possibly genetic in origin.",
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