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

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Fingerprint

Chromosome Aberrations
Genu Valgum
Joints
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Developmental Biology

Cite this

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.

A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria. / Lynch, Henry T.; Reed, W.; Mulcahy, G. M.; Frush, A. J.; Sweet, R. A.; Kaplan, A.; Villacorte, G.

In: Birth Defects: Original Article Series, Vol. 10, No. 8, 1974, p. 35-51.

Research output: Contribution to journalArticle

Lynch, HT, Reed, W, Mulcahy, GM, Frush, AJ, Sweet, RA, Kaplan, A & Villacorte, G 1974, 'A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria', Birth Defects: Original Article Series, vol. 10, no. 8, pp. 35-51.
Lynch, Henry T. ; Reed, W. ; Mulcahy, G. M. ; Frush, A. J. ; Sweet, R. A. ; Kaplan, A. ; Villacorte, G. / A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria. In: Birth Defects: Original Article Series. 1974 ; Vol. 10, No. 8. pp. 35-51.
@article{0627961061ce4a1d8f714862f4ea0167,
title = "A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria",
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).",
author = "Lynch, {Henry T.} and W. Reed and Mulcahy, {G. M.} and Frush, {A. J.} and Sweet, {R. A.} and A. Kaplan and G. Villacorte",
year = "1974",
language = "English",
volume = "10",
pages = "35--51",
journal = "Birth Defects: Original Article Series",
issn = "0547-6844",
publisher = "March of Dimes Birth Defects Foundation",
number = "8",

}

TY - JOUR

T1 - A familial syndrome characterized by peculiar facies, small stature, chromosomal aberrations and aminoaciduria

AU - Lynch, Henry T.

AU - Reed, W.

AU - Mulcahy, G. M.

AU - Frush, A. J.

AU - Sweet, R. A.

AU - Kaplan, A.

AU - Villacorte, G.

PY - 1974

Y1 - 1974

N2 - 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).

AB - 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).

UR - http://www.scopus.com/inward/record.url?scp=0016213567&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0016213567&partnerID=8YFLogxK

M3 - Article

VL - 10

SP - 35

EP - 51

JO - Birth Defects: Original Article Series

JF - Birth Defects: Original Article Series

SN - 0547-6844

IS - 8

ER -