Congenital Malformations Flashcards
Mental retardation Low set ears Holoprosencephaly (small forebrain and fusion of lateral ventricles to form a large one) Hypotelorism (eyes closer to each other) Microphthalmia Deafness Microcephaly Bilateral cleft lip and/or palate Single umbilical artery Polydactyly Prominent posterior heel
Patau Syndrome
Mental retardation Growth retardation Prominent occiput Short sternum Low set (and malformed) ears Flexed digits Narrow pelvis
Edwards Syndrome
Mental retardation Flat nasal bridge Upward slant to palpebral fissures Small mouth and ears Protuding tongue Single palmar line (simian crease) Clinodactyly of 5th digit Heart defects
Down Syndrome
mutation chromo 10 FGFR2 gene
apert’s syndome (acrocephalosynctayly)
mutation chromo 4 FGFR3 gene
achondroplasia
trisomy 21
down syndrome
trisomy 18
edwards syndrome
trisomy 13
Patau syndrome
en que sexo es mas comun defectos congenitos en PR
nenes
caus principal de mortad infantil en PR
prematurez y bajo peso al nacer
Defecto congenito mas comun en PR
corazon
genotype tuner syndrome
45 XO
genotype kleinfelter syndrome
47 XXY
large skull, small mmidface, average trunk, short limbs, short fingers, lumbar lordosis
achondroplasia
microdeletion on chromo15 in paternal chromo
prader willi syndrome
microdeletion on chromo15 in maternal chromo
angelman syndrome
• Mental retardation • Cannot speak • Poor motor development • Prone to unprovoked and prolonged periods of laughter
Angelman syndrome
Mental retardation • Hypotonia • Obesity • Hypogonadism • Cryptorchidism
Prader Willi Syndrome
chemical agents causing short palpebral fissures, maxillary hypoplasia, heart defects, mental retardation
fetal alcohol syndrome
chemical agents causing small, abnormally shaped ears, mandibular hypoplasia, cleft palate
Vitamin A embryopathy
chemical agents causing limb defects, heart malformations, meromelias, anotia, deafness, GI and uterus malformation
Thalidomide
What is the leading cause of mental retardation?
fetal alcohol syndrome
phenotype of FAS
congenital malformations that include growth deficiency and mental retardation
what type of chemical agent is Vit A?
boh a morphogen and a teratogen
What is the recommended daily intake of Vit A? Why?
5,000IU…its has a dose-response effect
Vit A phenotype
hydrocephalia, ear defects, hear malformations
Defectos congenitos mas comunes en PR
- Hipospadias 2. VSD 3. ASD Secundum (auricolar) 4. Talipes Equinovarus
3 risks factors for hypospadias in PR
more than 2.5kg wght, age of mother, private health insurance
where is the cluster of cases in PR?
north-central region
amelia
absence of limbs
partial adactyly
absenc of fingers/toes
syndactyly
webbing or fussion of fingers
disease and etiology
Crouzon Syndrome FGFR2 10q26
Disease and genotype
Pfeiffer Syndrome FGFR1, 8p12 or FGFR2, 10q26
Disease and genotype
Apert Syndrome FGFR2, 10q26
Disease and genotype FGFR3, 4p16
Diesease?
Angelman Syndrome
Disease
Prader Willis
Disease
Hypospadias
Disease
Vit A
Disease
FAS
