Genetics Flashcards
1
Q
Conditions associated with oligohydramnios
A
IUGR twin-twin renal agenesis prune belly T21 Tay Sachs
2
Q
CHARGE
A
Coloboma Heart defects Atresia of nose Retardation of growth/development Genital and/or urinary issues Ear abnormalities/ deafness
3
Q
Turner Syndrome presentation
A
Short stature broad chest wide nipples underdeveloped mandible short webbed neck coarc in 70% hearing loss, kidney issues, don’t develop secondary sexual characteristics lymphedema
Missing an X
4
Q
Fragile X manifestations
A
Macrocephaly Most common form of inherited intellectual disability Autism Large ears Protruding jaw with high arched palate Myopia Aortic dilation mitral valve prolapse Pectus excavatum
5
Q
Trisomy 18 manifestations
A
Ftt Coloboma Low set ears Micrognathia CHD- ASD/VSD seizures Delays Myelominigocele EA Extremetie deformities
6
Q
Achondroplasia
A
Dwarfism
Most common skeletal dysplasia
May develop hydrocephalus or OSA
7
Q
Marfan manifestations
A
Long limbs Joint hyperextendsbility Pectus Scoliosis Dental crowding Aortic dilation *risk for dissection Myopia * rk for retinal detachment
8
Q
Di George
A
Low T cell function Limb and spine abnormalities Cognitive delays TOF Ear dysfunction Cleft lip
9
Q
VACTERL
A
Vertebral defects Anal atresia Cardiac defects TE-F or EA Renal dysplasia Limb abnormalities
10
Q
Highlights of Williams syndrome
A
Cardiac septal defects
Ftt, dysphasia, colic
Upturned nose, wide mouth, starburst iris
Learning delays but average life expectancy
Low tone/ contractures possible
