A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria

H. T. Lynch, W. Reed, G. M. Mulcahy, A. J. Frush, R. A. Sweet, A. Kaplan, G. Villacorte

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Abstract

The female patient presented in this study is the third of four children in a family of Dutch ancestry. A small part of this family is remarkable because a number of its members are affected by several gene transmitted disorders, and increased occurrences of unusual tumors, which may give rise to chromosomal anomalies (characterized by short stature, peculiar facies, joint limitation, and genu valgum).

Original languageEnglish (US)
Pages (from-to)35-51
Number of pages17
JournalBirth Defects: Original Article Series
Volume10
Issue number8
StatePublished - Dec 1 1974

All Science Journal Classification (ASJC) codes

  • Developmental Biology
  • Genetics(clinical)

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    Lynch, H. T., Reed, W., Mulcahy, G. M., Frush, A. J., Sweet, R. A., Kaplan, A., & Villacorte, G. (1974). A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria. Birth Defects: Original Article Series, 10(8), 35-51.