dysmorphic child

Question 1

Pataus syndrome caused by

Answer 1

trisomy 13 .

Question 2

Patau key Fx

Answer 2

microcephalic
small eyes
dysplasticmalformed ears
cleft lip/palate
polydactyly
scalp lesions

Question 3

Edward syndrome caused by

Answer 3

trisomy 18

Question 4

Edwards syndrome Fx

Answer 4

micrognathia (small jaw)
low set ears
rockerbottom feet
overlapping of fingers

Question 5

Fragile X caused by

Answer 5

FMR1 repeat mutation
expansion of an untranslated CGG·CCG repeat in the 5′-untranslated region of the FMR1 gene on the X chromosome

Question 6

Fragile X Fx

Answer 6

learning difficulties
macrocephaly
long face
large ears
macro-orchiism

Question 7

Noonan syndrome caused by

Answer 7

Autosomal dominant
–> mutation in more than 8 genes

most common = PTPN11 / SOS1 / RAF1 / RIT1 / KRAS

Question 8

Noonan syndrome Fx

Answer 8

Webbed neck
pectus excavatum
short stature
pulmonary stenosis

Question 9

Pierre robinson Sequence caused by

Answer 9

unknown

Question 10

Pierre robinson sequence

Answer 10

triad of micrognathia / glossoptosis / airway obstruction
assoc w cleft lip

Question 11

Prader-willi syndrome caused by

Answer 11

genetic changes on an “unstable” region of chromosome 15 that affects the regulation of gene expression, or how genes turn on and off

Question 12

Prader-willi Fx

Answer 12

H3O
hyperphagia
hypotonia
hypopigmentation
obesity

Question 12

Williams syndrome caused by

Answer 12

autosomal dominant condition because one copy of the altered chromosome
by a partial deletion of up to 28 genes on chromosome 7

Question 13

Cri du chat syndrome aka

Answer 13

Chromosome 5p deletion syndrome

Question 14

Cri du chat syndrome

Answer 14

a partial deletion (monosomy) of a varying length of the short arm (p) of chromosome 5

Question 15

Cri du chat syndrome Fx

Answer 15

characteristic cry (hence name)
neurological problems
learning diff
feeding difficulties
microcephaly
micrognathia
hypertelorism (widely spaced eyes)

Question 16

Klinefelters syndrome caused by

Answer 16

caused by an additional X chromosome

Question 17

Klinefelters Fx

Answer 17

Tall stature, hypogonadism (low testosterone) , infertility, larger breasts, weaker bones

Question 18

Potter Syndrome Fx

Answer 18

flattened nose, recessed chim, prominent epicanthic folds, low set abnormal ears.

these + pulmonary hypoplasia = oligohydranios

cause of oligohydramniosis is renal agenesis