Syndromes

Question 1

Down syndrome

Answer 1

trisomy 21, 94 % due to a nondisjunction, facial features: uppward slanting palpebral fissures. inner epicanthal folds, mouth open with protruding tongue, flat occiput, short neck.
body: single palmar crease, hypotonia (improves with age), hearing loss, cardiac anomaly: AVSD, VSD, PDA; ASD, duoedenal atresia, Hirsprung disease, ALL MR (variable)

Question 2

Edwards syndrome

Answer 2

Trisomy 18
Facial features: low sett ears, microcephaly, micrognathia, prominent occiput, MR
Body: growth deficiency, clenched hand, index over 3rd and 5th finger over 4th. rocker bottom feet, VSD, ASD, PDA, omphalocele

Question 3

Patau syndrome

Answer 3

Trisomy 13
Trisomy 13
Severe MR; microcephaly, holoprosencephaly,
face: severe claft lip, palate or both. Scalp defect in parietal-occipital area, post axial polydactily, VSD, ODA, ASD

Question 4

WGAR syndrome

Answer 4

wilms + anirdia + GU anomalies + MR

Question 5

Kleinfelter syndrome

Answer 5

XXY: most common findings manifested at puberity.
MR, behavioural problems, long limbs, hypogonadism and hypogenitalism
Gynecomastia

Question 6

Turner syndrome

Answer 6

XO
genetically seen sporadic, paternal chromosomes more likely to be missing
clinical: small stature female, gonadal dysgenesis (streak ovaries), congenital lymphedema, broad chest, wide spaced nipples, low post hairline, webbed post neck. renal problems. Cardiac: bicuspid aortic valve, coarctation. Decresed height veocity with delayed bone age, estrogen treatment is indicated.

Question 7

Fragile x syndrome

Answer 7

XLD = males (most common cause of inherited MR)

mild to profound MR, large ears, dysmorphic features, large jaw, long face, Large testes

Question 8

Beckwith wideman syndrome

Answer 8

usually sproadic, IGF-2 disrupted at 11p15.5
Macrosomia
macroglossia
pancreatic betal cell hyperpasia –> hypoglycemua
omphalocele, increased risk of wilms tumor and hepatoblastoma. Musy check AFP every 6 months until 6 yrs of age.

Question 9

Pierre Robin sequence

Answer 9

cleft palate, micrognathia, retroglossia (possible airway obstruction)

Question 10

Potter sequence

Answer 10

Renal agensis/dysgenesis –> oligohydramnios, which leads to fetal compression. Lack of alveolar sac development = pulmonary hypoplasia.
Potter face; hypertelorism, epicanthal folds, low set flattened, ears, micrognathia, compressed flat nose.

Question 11

VACTERL association

Answer 11

Vertebral defect
anal atresia
Cardiac defect 
TEF
easophageal atresia 
renal defects 
Limb defects