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41 Cards in this Set

  • Front
  • Back
what percentage of babies who die has a congenital birth defect
~33%, 1/3
Trisomy 13 phenotype (give 3)
Cleft lip, extra toe, extra finger, mass at base of ambililicus w/ loops, infalacele, small falus, small eyes, broad nose , scalp defect
majority of birth defects are known T/F
F (unknown
1)give 2 extrinsic factors of abnormal morphogenesis
2)relative recurrance risk?
2) low
1)give an intrinsic factor of abnormal morphogenesis
1) Malformation
2)higher recurrence risk
Anomaly caused by an abnormal mechanical force that alters the shape of, but does not destroy, an otherwise normal organ without halting morphogenesis
e.g., papoose
give 2 classes
give examples
1)The presence of an abnormal force
- Dislocated hip from breech presentation
- Torticollis and craniofacial asymmetry from entrapment in a bifid uterus
- Facial compression and pulmonary hypoplasia from oligohydramnios (insufficient amniotic fluid)
- Intrauterine constraint in large for gestational age babies and multiple gestations
-transverse lie
2) The absence of a normal mechanical force
- High arched palate in myotonic dystrophy
Potter sequence
Renal agenesis
Pulmonary hypoplasia
In utero constraint
Genu recurvatum
Rocker bottom feet
Large flat ears
Consequences of Insufficient amniotic fluid
Anomaly caused by an environmental or extrinsic factor that destroys otherwise normal tissue and interrupts normal morphogenesis
A drug or other agent that causes abnormal prenatal development.
give 2 major causes of disruption
1)exposure to teratogens
e.g. retinoic acid, thalidomide, etoh, tobacco
2)absence of morphogen
e.g., folic acid
give 2 examples of disruption
Microcephaly from maternal PKU
Cataract, deafness, heart defect and mental retardation from rubella
Limb anomalies from thalidomide
Ear and brain anomalies from retinoic acid
Amputations and constriction rings due to amniotic bands
Retinoic acid embryopathy
Increased risk of miscarriage
Ear anomalies
Facial palsy
Aortic arch anomalies
Other causes of disruption
Other Causes:

Maternal Disease
- Diabetes
- Phenylketonuria (PKU)

Maternal Infection
- Rubella
- Cytomegalovirus

Vascular accidents
- Hypotension, placental
- hemorrhage/abruption
- Thromboemboli

Amniotic Rupture
Amniotic Band Sequence
Asymmetric amputations
Circumferetial constrictions bands
Distal swelling
Normal anatomy proximal to lesions
Distal and proximal amputations
Low recurrence risk
Vascular disruption Amyoplasia
Hypoxia or hypoperfusion of cord
Diminished muscle mass
Policeman’s tip position of arm
Amyoplasia and Amniotic bands
Amniotic rupture at time of vascular event
Decreased movement may prevent serious amputations
women of reproductive age should take how much folic acid daily
Malformation (def)
Anomaly caused by intrinsic factors that result in abnormal tissue or defective morphogenesis
Malformation - Neural tube defect
Failed closure of neural tube at 28 days gestation
Multifactorial trait
3% recurrence risk
Folic acid can prevent 70% when taken prior to conception
Malformation - Ectrodactyly
Split hand and foot with absent middle rays
Inherited as an autosomal dominant trait
Can occur in isolation or as part of syndromes
Malformation – Cleft lip/Palate
Failure of premaxilla to fuse with lateral facial processes at 7 weeks gestation
Usually inherited as a multifactorial trait
Can occur in isolation or as part of syndromes
When there is more than one anomaly, the _______ between the anomalies is the key to the diagnosis
Syndrome (def.)
A recognizable pattern of anomalies with a single cause
Van der Woude syndrome - clinical signs
-characterized by left palate, Cleft lip, Lip pits
Van der Woude syndrome -
Autosomal dominant trait
IRF6 gene mutation detectable in 50%
Variable expressivity and penetrance
70% who inherit the mutation have a cleft that requires surgery
EEC Syndrome
clinical signs & genotype
Ectodermal dysplasia
Cleft lip and palate
Autosomal dominant disorder
Adams Oliver syndrome
Autosomal dominant trait
Transverse terminal defect - Ectrodactyly
Scalp and skin defects
Symmetric lesions

Autosomal dominant trait with variable expressivity
Check parents for small scalp defect
Can be mistaken for amniotic band sequence, but symmetry of lesions rules that out.
Dysplasia (def)
A pattern of malformations affecting the same tissue type.
X-linked Ectodermal Dysplasia
Females can be mildly affected with thin hair, poor teeth and patchy sweating
Males have missing or needle-like teeth, absent sweating, dry skin, alopecia
Most common bone dysplasia
Autosomal dominant disorder
Mutations in FGFR3 exclusively of paternal origin
Advanced paternal age is common; most are new mutations
Different FGFR3 mutations cause similar disorders: hypochondroplasia and thanatophoric dysplasia
Thanatophoric Dysplasia
Most common lethal bone dysplasia
Rhizomelia-shortening of upper long bones
Trident hand
Thanatophoric dysplasia Radiographic features
Telephone receiver femurs
Stellate iliac bones
Osteogenesis Imperfecta, Type II
Lethal defect of collagen
Severe intrauterine fractures
Autosomal dominant trait
Most are new mutations
Parental gonadal mosaicism leads to recurrence in 2-6%
Osteogenesis Imperfecta, II Radiographic features
Accordion femur
Beaded ribs
Bent long bones Multiple fractures
Association (def.)
A pattern on anomalies that occur together more often than expected by chance alone, but not in any single pattern and not necessarily with a single cause.
example of Association
In VATER association the following anomalies occur together more commonly than would be predicted by chance yet in no particular pattern
-VSD and Vertebral defects
-Imperforate anus
-Tracheo-esophageal fistula
-Radial and Renal defects
Sequence (def.)
A pattern of anomalies in which a primary defect leads to one or more secondary defects; a cascade effect
Holoprosencephaly Sequence
- Midline CNS structures induce premaxillary process
- Premaxillary agenesis
Holoprosencephaly Sequence “The face predicts the brain”
Cebocephaly, single nostril
Check parents for single central incisor