Muscular and skeletal anomalies in human trisomy in an evo-devo context : description of a T18 cyclopic fetus and comparison between Edwards (T18), Patau (T13) and Down (T21) syndromes using 3-D imaging and anatomical illustrations

221 Pages·2015·96.28 MB·English

by  Rui Diogo

The seemingly endless forms of life that inhabit our world inspire in us a deep-
felt wonder. Could the variety we see before us be directed through
The seemingly endless forms of life that inhabit our world inspire in us a deep-
The seemingly endless forms of life that inhabit our world inspire in us a deep-
mechanisms that can be illuminated through their own errors? The study of
fTehlte wseoenmdeinr.g lCy oeunlddl esthse f ovrmarsie otfy l ifwe eth aste ineh abbeifto oruer wuso rlbde in sdpirierec tiend u st ah rdoeuegph-
felt wonder. Could the variety we see before us be directed through
abnormal development, such as human trisomy and cyclopia, allows us to
mfeeltc hwaonnisdmers. thCaotu clda nt hbee ilvluamrieintya tewde thsreoeu gbhe tfhoerier ouwsn beerr odrisr?e cTtehde stthurdoyu gohf
mechanisms that can be illuminated through their own errors? The study of
explore the mysteries and mechanisms behind normal evolutionary and
ambencohrmanaisl mdesv tehloapt cmaenn bt,e s iullcuhm ainsa hteudm tahnro turgisho mthye iar nodw ncy ecrlrooprisa?, Talhloew sstu udsy toof
abnormal development, such as human trisomy and cyclopia, allows us to
developmental processes and can provide insight into how morphology
eaxbpnloorrme athl ed emveylsotpemrieesn ta, nsdu cmh eacsh haunmisamns trbiseohminyd annodr mcyacl loepvioal,u atiollonwarsy uasn tdo
explore the mysteries and mechanisms behind normal evolutionary and
changes throughout evolution. By studying the abnormal, we can determine
deexvpelolorep mtheen taml ypsrteorcieesss easn da nmde cchaann ipsrmovsi dbee hininsdig hnto rimntaol heovwol umtioonrpahryo loagnyd
developmental processes and can provide insight into how morphology
the “normal” morphological and developmental mechanisms in comparison
cdheavnegloepsm thernotuagl hporuotc eevsosleusti oann.d B yc asntu dpyroinvgid teh ei nasbingohrt minatlo, wheo cwa nm doerptehromloingey
changes throughout evolution. By studying the abnormal, we can determine
with the associated genetic conditions, better understand the correlations
tchhea “nngoersm tahlr”o mugohrpohuot leovgoicluatli oann.d B dye svteuldoypimnge nthtael ambencohrmanails, mwse icna cno dmeptearrmisionne
the “normal” morphological and developmental mechanisms in comparison
between phenotype and genotype, and explore the applications and
wthiteh “tnhoer maassl”o mcioartpehdo gloegniectaicl acnodn ddietivoenlso,p bmeettnetra lu mndeecrhsatannisdm tsh ein ccoormreplaatriiosnosn
with the associated genetic conditions, better understand the correlations
implications of these data for medicine and public health. This book is one of
bweitthw etheen apshseoncoiattyepde gaennde ticg ecnoontdyiptieo,n sa, nbde tteexrp ulonrdee rtshtea nda ptphleic caotirornesla tiaonnds
between phenotype and genotype, and explore the applications and
the first in a new scientific area named “Evolutionary Developmental
ibmeptwliceaetino npsh oefn thoetyspee d aatnad f org meneodtiycpinee, aanndd p uebxlpicl ohreea ltthhe. T haipsp bliocoakti oisn osn ea nodf
implications of these data for medicine and public health. This book is one of
Anthropology”; specifically, in this book, human birth defects, rather than
tihmep lficirastti oinns ao f tnheewse sdcaietan ftoifirc m aerdeicai nnea amnedd p u“bElivco hluetaioltnha. rTyh iDs ebvoeolko pism oennet aolf
the first in a new scientific area named “Evolutionary Developmental
mutants of non-human model organisms, are studied to explore both normal
Athneth rfoirpsto loing ya”; snpeewc ifsiccaiellny,t ifiinc tahrise ab onoakm, heudm “aEnv obluirttiho ndaerfye cDtse, vrealtohpemr ethnatanl
Anthropology”; specifically, in this book, human birth defects, rather than
and abnormal developmental and evolutionary mechanisms, processes and
mAnuttharnotsp oolfo ngoyn”;- hsupmecainfi cmaollyd,e iln o rtghaisn ibsomosk,, ahreu mstaund iebdir ttho edxepfelocrtes, b roatthh enro rtmhaanl
mutants of non-human model organisms, are studied to explore both normal
patterns. Moreover, this multidisciplinary work combines scientific research
amnudt aanbtnso ormf naol nd-ehvuemloapnm meondtaell a onrgda envioslmutsio, naarery s mtuedciehda tnoi semxpsl,o prreo bcoetshs enso ramnadl
and abnormal developmental and evolutionary mechanisms, processes and
lead by Rui Diogo, an award winning investigator, with state-of-the-art
paantdte arnbsn.o Mrmoarel doevever,l othpims menutlatild aisncdi pelvinoaluryti ownoarrky cmoemcbhianneiss mscsie, pnrtoificce rsesseesa arcnhd
patterns. Moreover, this multidisciplinary work combines scientific research
anatomical and medical illustrations and 3D imaging, done by two award
lpeaatdte rbnys .R Muoi rDeoiovgeor,, thains mawulatirddis cwipinlinnianrgy winovreks tcigoamtobrin, ewsi tshc iestnattifeic-o rfe-tsheea-racrht
lead by Rui Diogo, an award winning investigator, with state-of-the-art
winning young illustrators in the US, Christopher Smith and Julia Molnar.
alenaadto mbyic aRl uai nDd iomgeod, icaanl ialluwsatrradt iowninsn ainngd i3nDve ismtiaggaitnogr,, wdoitnhe sbtayt etw-oof -tahwea-ardrt
anatomical and medical illustrations and 3D imaging, done by two award
Since the book focuses on both muscular and skeletal birth defects in
waninantionmg icyaolu anngd i llmusetdraictoarl si lliuns tthraet ioUnSs, aCnhdr is3tDop ihmearg Sinmgi,t hd oanned bJyu ltiaw oM aowlnaarrd.
winning young illustrators in the US, Christopher Smith and Julia Molnar.
humans with trisomy and cyclopia, including Down syndrome—one of the
Swiinncnein tgh ey obuonogk i llfuoscturasetosr so inn bthoeth U mS,u sCchurliasrto apnhde r sSkmeleithta la nbdir tJhu ldiae fMecotsln ainr.
Since the book focuses on both muscular and skeletal birth defects in
most studied human syndromes—it will be of interest to a wide audience,
hSuinmcaen sth we itbho toriks ofmocyu saensd coync lbooptiha , minucslucduilnagr Danodw ns kseylnedtarol mbiert—h odneefe ocft sth ien
humans with trisomy and cyclopia, including Down syndrome—one of the
including medical researchers, physicians, surgeons, medical and dental
mhuomsta sntsu dwieitdh htruismoamny saynndd rcoymcleosp—iai,t iwncilllu bdein go f Dinotwerne ssty tnod rao mwied—e oanued ieonf cthee,
most studied human syndromes—it will be of interest to a wide audience,
students, pathologists, and pediatricians, among others, while also being of
imncolustd isntgu dmieedd hicuaml arens esyanrcdhroemrse, sp—hyits iwciiall nbse, souf rigneteorness,t mtoe ad iwcaidl ea nadu ddieennctael,
including medical researchers, physicians, surgeons, medical and dental
interest to developmental and evolutionary biologists, anatomists, functional
sintucdluednintsg, pmaethdoicloagl isretss,e aanrcdh peersd,i aptrhicyisaincisa,n asm, osnugrg oetohnesr,s ,m wehdiliec aall saon bde dinegn toafl
students, pathologists, and pediatricians, among others, while also being of
morphologists, and zoologists.
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interest to developmental and evolutionary biologists, anatomists, functional
minoterprehsotl otog disetsv,e alonpdm zoeonltoagl aisntsd. evolutionary biologists, anatomists, functional
morphologists, and zoologists.
morphologists, and zoologists.
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Muscular and Skeletal Anomalies
in Human Trisomy in an
Evo-Devo Context
Description of a T18 cyclopic fetus and comparison
between Edwards (T18), Patau (T13) and Down (T21)
syndromes using 3-D imaging and anatomical illustrations

Muscular and Skeletal Anomalies
in Human Trisomy in an
Evo-Devo Context
Description of a T18 cyclopic fetus and comparison
between Edwards (T18), Patau (T13) and Down (T21)
syndromes using 3-D imaging and anatomical illustrations
• Christopher M. Smith • Julia L. Molnar
• Janine M. Ziermann • Marjorie C. Gondré-Lewis
• Corinne Sandone • M. Ashraf Aziz
• Edward T. Bersu • Rui Diogo
p,
A SCIENCE PUBLISHERS BOOK
GL--Prelims with new title page.indd ii 4/25/2012 9:52:40 AM
Illustrations in the book by Christopher M. Smith and Julia L. Molnar
Cover illustrations: Background image: Illustrated by James Didusch (Mall, 1917). Used with permission. Department of
Art as Applied to Medicine, Johns Hopkins University School of Medicine. Foreground images: Illustrations by Christo-
pher M. Smith, Department of Art as Applied to Medicine, Johns Hopkins University School of Medicine.
CRC Press
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Preface
The seemingly endless forms of life that inhabit our world inspire in us a deep-felt
wonder. Could the variety we see before us be directed through mechanisms that can be
illuminated through their own errors? The study of abnormal development, such as human
trisomy and cyclopia, allows us to explore the mysteries and mechanisms behind normal
evolutionary and developmental processes and can provide insight into how morphology
changes throughout evolution. By studying the abnormal, we can determine the “normal”
morphological and developmental mechanisms in comparison with the associated genetic
conditions, better understand the correlations between phenotype and genotype, and
explore the applications and implications of these data for medicine and public health.
This book is one of the fi rst of a new scientifi c area named “Evolutionary Developmental
Anthropology”; specifi cally, in this book in human birth defects, rather than mutants of non-
human model organisms, are studied to explore both normal and abnormal developmental
and evolutionary mechanisms, processes and patterns. Moreover, this multidisciplinary
work combines scientifi c research lead by Rui Diogo, a multi-awarded investigator, with
state-of-the-art anatomical and medical illustrations and 3D imaging, done by two of the
more brilliant—and also multiawarded—young illustrators in the US, Christopher Smith
and Julia Molnar. By focusing on both muscular and skeletal birth defects in humans
with trisomy and cyclopia, including Down syndrome—one of the most studied human
syndromes that, due to its high incidence and the fact that individuals with this syndrome
often live until adulthood, is of special interest to the scientifi c and medical community—,
this book is of interest to a wide audience, including medical researchers, physicians,
surgeons, medical and dental students, pathologists, and pediatricians, among others,
while also being of interest to developmental and evolutionary biologists, anatomists,
functional morphologists, and zoologists.

Acknowledgements
We would like to thank Valerie DeLeon, Sarah Poynton, David Rini, Gary Lees, and
the Department of Art as Applied to Medicine at Johns Hopkins University School of
Medicine for supporting the Masters thesis project leading to this book. A special thanks
to pathologists William Green and Marie Fidélia-Lambert of the Howard University
College of Medicine for identifying the specimen for our use and gathering critical initial
data, Stephen Lin from the molecular imaging laboratory at Howard University College
of Medicine for his help with CT imaging data and to the Vesalius Trust for providing
funding for the initial case study research. This research was also supported by a start-up
package to Rui Diogo, from the Howard University College of Medicine.
We also want to thank M. Chardon, B. Wood, B. Richmond, M. Ashley-Ross, P. Ahlberg,
G. Wagner, C. Boisvert, M. Linde-Medina, J. Hutchinson, V. Abdala, S. Walsh, and P.
Johnston for discussions about appendicular muscles. In addition, we would like to thank
the very helpful comments of Sharlene Santana and Michael Alfaro about the parts of the
book concerning evolutionary reversions and Dollow’s law, and of Randall Roper about
the parts regarding mouse models for Down syndrome and apoptosis. A special thanks
to R. Walsh and F. Slaby (Department of Anatomy, George Washington University), R.
Bernstein and S. McFarlin (Department of Anthropology, George Washington University),
N. Rybczynski (Canadian Museum of Nature), H. Mays (Cincinnati Museum of Natural
History), F. Pastor (Department of Anatomy, University of Valladolid), A. Gorow, H. Fitch-
Snyder and B. Rideout (San Diego Zoo) and J. Fritz and J. Murphy (Primate Foundation
of Arizona) for kindly providing the non-primate and primate mammalian specimens
dissected during this project.
We offer our special gratitude to the following pioneering investigators of the fi eld of
gross and developmental anomalies associated with human and aneuploid syndromes:
Dr. John M. Opitz; Dr. James C. Pettersen; Ms. Beverly A. Barash; Dr. Leonard Freedman;
Dr. Sharon Colacino, and Dr. Jose L. Ramirez-Castro; our work endeavors to build upon
the sound foundation constructed by these investigators. We also acknowledge the work
of Mr. Erik O. Felix (Research Librarian) of the Louis Stokes Health Sciences Library of
Howard University, Washington, DC; he helped us to locate diffi cult to fi nd articles; Mr.
Stafford Battle helped in the preparation of the manuscript.
Thank you to all of our family and friends. The fi rst author of this book wants to
specifi cally thank Dwight and Vira Smith, Matthew Smith, Harold and Jean Donato,
Dwight and Carol Smith, and Katharine Jones for their love and constant support, as well
viii Muscular and Skeletal Anomalies in Human Trisomy in an Evo-Devo Context
as the Classes of 2014 and 2015 from the Department of Art as Applied to Medicine at the
Johns Hopkins University School of Medicine, specifi cally James Abraham, Jackie Meyer,
Katelyn McDonald, Michael Silver, Veronica Falconieri, and Samantha Welker for all of
their inspiration, advice and encouragement throughout the creation of this project.