7/25/2019 Dys Morphology

1/16

DysmorphologyDysmorphology

S. Yudha PatriaS. Yudha Patria

7/25/2019 Dys Morphology

2/16

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

7/25/2019 Dys Morphology

3/16

Low Nasal Bridge

Broad Nasal Bridge

7/25/2019 Dys Morphology

4/16

Simian crease/ lineSimian crease/ line

7/25/2019 Dys Morphology

5/16

Syndactyly

http://www.eatonhand.com/jpg/1281706.JPG

7/25/2019 Dys Morphology

6/16

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

7/25/2019 Dys Morphology

7/16

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

7/25/2019 Dys Morphology

8/16

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

7/25/2019 Dys Morphology

9/16

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

7/25/2019 Dys Morphology

10/16

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

7/25/2019 Dys Morphology

11/16

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

7/25/2019 Dys Morphology

12/16

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

7/25/2019 Dys Morphology

13/16

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

7/25/2019 Dys Morphology

14/16

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

7/25/2019 Dys Morphology

15/16

ReferensiReferensi

/oodman M : /orlin ; +he/oodman M : /orlin ; +he

malformed infant and child 8 anmalformed infant and child 8 an

illustrated guide,

7/25/2019 Dys Morphology

16/16