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DysmorphologyDysmorphology
S. Yudha PatriaS. Yudha Patria
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Dysmorphic is,Dysmorphic is,
if the anatomical measures outsideif the anatomical measures outside
the normal rangethe normal range
Dysmorphology isDysmorphology is
the discipline concerned with theirthe discipline concerned with their
identication,identication,
delineation, diagnosis and managementdelineation, diagnosis and management
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Low Nasal Bridge
Broad Nasal Bridge
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Simian crease/ lineSimian crease/ line
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Syndactyly
http://www.eatonhand.com/jpg/1281706.JPG7/25/2019 Dys Morphology
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MalformationMalformation
Morphologic defect of an organ,Morphologic defect of an organ,
part of organ or other region of thepart of organ or other region of the
body resulting from an intrinsicallybody resulting from an intrinsicallyabnormal development processabnormal development process
Normal developmentNormal development
MalformationMalformation
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DisruptionDisruption
Morphologic defect of an organ,Morphologic defect of an organ,
part of organ or other region ofpart of organ or other region of
the body resulting from anthe body resulting from anetrinsic brea!down of, or anetrinsic brea!down of, or an
interference with, an originallyinterference with, an originally
normal developmental processnormal developmental process
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DeformationDeformation
"bnormal form, shape, or position"bnormal form, shape, or position
of part of the body caused byof part of the body caused by
mechanical processmechanical process
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DysplasiaDysplasia
"bnormal organi#ation of cells into"bnormal organi#ation of cells into
tissue$s% and the morphologic resulttissue$s% and the morphologic result
&istogenesis&istogenesis
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Se'uenceSe'uence(( pattern of multiple anomaliespattern of multiple anomaliesderived from a single !nown or presumed priorderived from a single !nown or presumed prior
anomaly or mechanical factoranomaly or mechanical factor
MyelomeningoceleMyelomeningocele
"ssociation"ssociation(( a nonrandom occurance in two ora nonrandom occurance in two or
more individuals of multiple anomalies not !nownmore individuals of multiple anomalies not !nownto represent a polytopic eld defectto represent a polytopic eld defect
)"*+- association)"*+- association
SyndromeSyndrome(( " pattern of multiple anomalies" pattern of multiple anomaliesthough to be pathogenetically related and notthough to be pathogenetically related and not
!nown to represent a single se'uence or a!nown to represent a single se'uence or a
polytopic eld defectpolytopic eld defect
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Hystory and Physical examinationHystory and Physical examination
Prenatal problem PostnatalPrenatal problem Postnatalproblemproblem
/enetics -nvironment 0n!nown/enetics -nvironment 0n!nown
Single primary defect Multiple MalformationSingle primary defect Multiple Malformation
Malformation Deformation Disruption DysplasiaMalformation Deformation Disruption Dysplasia
*hromosomal /ene -nvironmental 0n!nown*hromosomal /ene -nvironmental 0n!nown
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Fetal environmentalFetal environmental
problemsproblems "mniotic band disruption"mniotic band disruption
"nti1folic acid embryopathy"nti1folic acid embryopathy
2etal alcohol syndrome2etal alcohol syndrome
2etal cytomegalovirus syndrome2etal cytomegalovirus syndrome
3attered child3attered child etcetc
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Genetic problemsGenetic problems
*hromosomal*hromosomal1 +risomy 4, 56, 54, 751 +risomy 4, 56, 54, 75
1 *at eye syndrome1 *at eye syndrome
/enes/enes
1 *onnective tissue1 *onnective tissue
1 2acial 8 s!eletal1 2acial 8 s!eletal1 -ndocrine 8 metabolic1 -ndocrine 8 metabolic
1 S!eletal dysplasia1 S!eletal dysplasia
1 S!in and hair1 S!in and hair
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Developmental DefectsDevelopmental Defects
"nencephaly"nencephaly "rthrogryposis $congenital contractures%"rthrogryposis $congenital contractures%
*loverleaf s!ull*loverleaf s!ull *raniosynostosis*raniosynostosis -ncephalocele-ncephalocele
Prune1belly syndromePrune1belly syndrome
Sturge19eber anomalySturge19eber anomaly )"+- association)"+- association etcetc
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ReferensiReferensi
/oodman M : /orlin ; +he/oodman M : /orlin ; +he
malformed infant and child 8 anmalformed infant and child 8 an
illustrated guide,
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