Dysmorphism Flashcards
Unusual anatomic feature - no medical or cosmetic consequence to patient
Minor anomaly
Primary malformation or secondary disruption or deformation constitute
Major anomalies
The presence of three or more minor anomalies points to
Covert anomalies or a syndromic diagnosis
a morphologic defect or an organ, part of an organ or larger region of the body resulting from INTRINSICALLY abnormal developmental process
Malformation e.g.
polydactyly, neural tube defect, holoprosencephaly spectrum, cleft lip
if the defect results from the extrinsic breakdown, or interference with an originally developmental process
Disruption e.g. amniotic band sequence, gastroschisis
Abnormal form, shape or position of part of the body caused by mechanical forces
Deformation e.g. Potter sequence - lack of normal kidneys leads to oligohydramnios, talipes
Abnormal cell organization and tissue
Dysplasia e.g. Thanatorphic dysplasia, achondroplasia, hemangioma
A pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor
Sequence e.g. oligohydramnios (renal agenesis, lack of urine output, decrease amniotic fluid), Pierre Robin
Nonrandom concurrence of independent malformations whose aetiology is unknown
VACTERL Association
VACTERL
vertebral anomalies anal atresia CV anomalies tracheoesophageal fistula esophageal atresia renal preacial limb DIAGNOSIS if 3/7 defects present
a recognized pattern of developmentally independent malformations having one etiology
Down syndrome
Marfan
Polycistic kidney disease
CHARGE syndrome
CHARGE syndrome
choanal atresia
iris coloboma
hearing loss
