Dysmorphology

S. Yudha Patria
Dysmorphic is,

if the anatomical measures outside
the normal range

Dysmorphology is
the discipline concerned with their identification,
delineation, diagnosis and management
Low Nasal Bridge
Broad Nasal Bridge
Simian crease/ line
Syndactyly
Malformation
Morphologic defect of an organ, part
of organ or other region of the body
resulting from an intrinsically abnormal
development process

Normal development


Malformation
Disruption
Morphologic defect of an organ, part
of organ or other region of the body
resulting from an extrinsic breakdown
of, or an interference with, an
originally normal developmental
process


Deformation
Abnormal form, shape, or position of
part of the body caused by mechanical
process
Dysplasia

Abnormal organization of cells into
tissue(s) and the morphologic result

Histogenesis
Sequence: pattern of multiple anomalies derived from
a single known or presumed prior anomaly or
mechanical factor
Myelomeningocele

Association: a nonrandom occurance in two or more
individuals of multiple anomalies not known to represent
a polytopic field defect
VACTREL association

Syndrome: A pattern of multiple anomalies though to
be pathogenetically related and not known to represent
a single sequence or a polytopic field defect
Hystory and Physical examination

Prenatal problem Postnatal problem

Genetics Environment Unknown

Single primary defect Multiple Malformation


Malformation Deformation Disruption Dysplasia


Chromosomal Gene Environmental Unknown
Fetal environmental
problems
Amniotic band disruption
Anti-folic acid embryopathy
Fetal alcohol syndrome
Fetal cytomegalovirus syndrome
Battered child
etc
Genetic problems
Chromosomal
- Trisomy 8, 13, 18, 21
- Cat eye syndrome

Genes
- Connective tissue
- Facial skeletal
- Endocrine metabolic
- Skeletal dysplasia
- Skin and hair
Developmental Defects
Anencephaly
Arthrogryposis (congenital contractures)
Cloverleaf skull
Craniosynostosis
Encephalocele
Prune-belly syndrome
Sturge-Weber anomaly
VATER association
etc
Referensi
Goodman RM & Gorlin RJ The
malformed infant and child an
illustrated guide, Oxford University
Press