The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth

被引：2

作者：

Heyne, Thomas F. ^{[1
,2
]}

Neri, Giovanni ^{[3
]}

Lin, Angela E. ^{[4
]}

机构：

[1] Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Dept Pediat, Boston, MA 02114 USA

[3] Catholic Univ, Sch Med, Inst Genom Med, Rome, Italy

[4] MassGen Hosp Children, Genet Unit, Boston, MA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2021年 / 187卷 / 02期

关键词：

artwork; genetics; PIK3CA; PROS; woodcut;

D O I：

10.1002/ajmg.c.31892

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition.

引用

页码：168 / 172

页数：5

共 6 条

[1]

[Anonymous], 1921, WUNDER WUNDERGEBURT

[2] Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials [J].

Garde, Aurore ;

Guibaud, Laurent ;

Goldenberg, Alice ;

Petit, Florence ;

Dard, Rodolphe ;

Roume, Joelle ;

Mazereeuw-Hautier, Juliette ;

Chassaing, Nicolas ;

Lacombe, Didier ;

Morice-Picard, Fanny ;

Toutain, Annick ;

Arpin, Stephanie ;

Boccara, Olivia ;

Touraine, Renaud ;

Blanchet, Patricia ;

Coubes, Christine ;

Willems, Marjolaine ;

Pinson, Lucile ;

Van Kien, Philippe Khau ;

Chiaverini, Christine ;

Giuliano, Fabienne ;

Alessandri, Jean-Luc ;

Mathieu-Dramard, Michele ;

Morin, Gilles ;

Bursztejn, Anne-Claire ;

Mignot, Cyril ;

Doummar, Diane ;

Di Rocco, Frederico ;

Cornaton, Jenny ;

Nicolas, Claire ;

Gautier, Elodie ;

Luu, Maxime ;

Bardou, Marc ;

Sorlin, Arthur ;

Philippe, Christophe ;

Edery, Patrick ;

Rossi, Massimiliano ;

Carmignac, Virginie ;

Thauvin-Robinet, Christel ;

Vabres, Pierre ;

Faivre, Laurence .

CLINICAL GENETICS, 2021, 99 (05) :650-661

[3] Sixteenth-century German woodcut of a male infant with possible disorganization [J].

Heyne, T. F. ;

Robinban, N. H. ;

Lin, A. E. .

CLINICAL GENETICS, 2016, 89 (02) :269-271

[4] Lanfranco's Dropsical Child: The First Depiction of Congenital Heart Disease? [J].

Heyne, Thomas F. .

PEDIATRICS, 2016, 138 (02)

[5] PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation [J].

Keppler-Noreuil, Kim M. ;

Rios, Jonathan J. ;

Parker, Victoria E. R. ;

Semple, Robert K. ;

Lindhurst, Marjorie J. ;

Sapp, Julie C. ;

Alomari, Ahmad ;

Ezaki, Marybeth ;

Dobyns, William ;

Biesecker, Leslie G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (02) :287-295

[6]

Strauss WalterL., 1975, The German Single-Leaf Woodcuts 1550 - 1600

← 1 →