Congenital Flashcards
Problems in wks 1-2 cause
Prenatal death
Problems in wks 3-7 cause
Major morphological abnormalities
Problems after wk 8 cause
Physiological defects and minor morphological abnormalities
Dysmorphology
Study of birth defects
Shows a problem with generalized growth and/or formation of one or more structures of the body
Dysmorphic individual
Unknown > chromosomal > Mendelian
Causes for birth defects
Defect that requires surgery or medical intervention
Major anomaly
Neural tube defects, cleft lip/palate are examples of
Major anomalies
Have no serious medical or cosmetic significance
Minor anomalies
______ or more minor anomalies raise suspicion for possibility of a major anomaly
3
Simian crease and palpebral slant are examples of
Minor anomalies
Features that fall to the far end of spectrum of normal. Can serve as indicators of altered morphogenesis and clues to patterns of malformation
Normal variants
Flat nasal bridge, hydrocele, and syndactyly of 2nd/3rd toes are
Normal variants
Intrinsically abnormal developmental process
Malformation
Cleft lip, polydactyly
Malformation
Mechanical compression
Deformation
Clubfoot, plagiocephaly
Deformation
Breakdown of otherwise normal developmental process
Disruption
Amniotic band amputation, porencephaly
Disruption
Abnormality due to intrinsic problem within developing structure
Malformation
Caused by altered tissue formation/growth/differentiation due to genetic, environmental, or a combination of factors
Malformation
Primary structural defect resulting from an error in tissue formation
Malformation
Lack of development
Aplasia
Microcephaly micrognathia
Hypoplasia
Cleft palate, Iris coloboma
Incomplete closure
Syndactyly
Incomplete separation
VSD
Incomplete septation
Extrophy of bladder
Incomplete migration
Meckel diverticulum, cloana atresia
Incomplete resolution of early form
Low-set ears
Persistence of early location
Polydactyly, ear tag
Redundant morphogenesis
Mediastinal thyroid
Aberrant morphogenesis
Abnormality due to extrinsic force on a normally developing structure. Caused by fetal constraint
Deformation
Intrinsic (fetal akinesia) can cause
Deformation
Asymmetric head. Can occur pre or post natally. Corrected by helmets or positioning
Plagiocephaly
Plagiocephaly is a
Deformation
Abnormality due to a destructive force acting upon the developing structure
Disruption
Caused by cell death/tissue destruction due to vascular, infectious, or mechanical forces
Disruption
Caused by a vascular accident. Occlusion of cerebral artery can cause formation of a porencephalic cyst
Porencephaly
Amniotic fluid resorption by exposed _______ leads to transient oligohydramnios and fetal constraint
Chorion
Subclavian artery disruption, absent pec muscle, ipsilateral limb defect
Poland anomaly
Clubfoot w/o CNS anomaly, PDA, VSD
Most common congenital anomalies