Dysmorphology Flashcards
1
Q
Main features of achondroplasia?
A
rhizomelic limb shortening foramen magnum compression short stature autosomal dominant risk increases with paternal age
2
Q
which syndrome does the risk increase with paternal age?
A
achondroplasia
3
Q
Main features of Waardenburg syndrome
A
sensorineural and hearing impairments white forelock iris heterochromatia premature greying areas of skin hypo pigmentation
4
Q
Main features of Digeorge syndrome?
A
learning difficulties cleft palate sound nasal - velopharyngeal insufficiency congenital heart defect hypocalcaemia seizures immune deficiency renal malformations
5
Q
what chromosome is affected in Digeorge syndrome?
A
22
6
Q
What chromosome is affected in williams syndrome?
A
7
7
Q
Main features of williams syndrome?
A
cocktail party speech congenital heart disease - supravalvic aortic stenosis - peripheral pulmonary artery stenosis hypercalcaemia
8
Q
Main features of kabuki syndrome?
A
Persistant fetal finger pads cleft palate poor growth premature breast development hearing impairment congenital heart disease
9
Q
main features of teachers collins syndrome
A
big eyes
small chin and sunken cheekbones
failure of migration of neural crest cells in the face
hearing impairment
10
Q
beck with-weidemann syndrome features?
A
omphecele/exomphalos = intestines come out of stomach ear pits large tongue hemihypertrophy increased risk of films tumour hypoglycaemia
11
Q
peutz-jeghers syndrome
A
prone to GI polyps
cancer syndrome
can lead to malignancies - colorectal, gastric, breast, pancreatic
