Pediatrics Flash Cards - Case 29 - Infant hypotonia

Question 1

Gold standard for confirming suspected case of Downs Syndrome?

Answer 1

lymphocyte karyotype

Question 2

Conditions that commonly co-occur with Downs Syndrome?

Answer 2

hypothyroidism, hearing & vision difficulties, structural heart dz (specifically endocardial cushion defects), H&H to r/o iron-def anemia, !!! atlantoaxial instability, A.L.L.

Question 3

In Turner’s syndrome, look out for what serious complication?

Answer 3

Coarctation

Question 4

Physical exam findings at birth with Turner’s (X0)?

Answer 4

Webbed neck; Low ears; Edema of the hands and feet; Hyperconvex nails, and “shield” chest w/ widely spaced nipples; Cystic hygromas; and 20% have COARCTATION of the aorta (other Congen heart defects)

Question 5

Genetic cause of Patau syndrome? Presentation?

Answer 5

Trisomy 13; Facial features are pushed towards midle: Microphthalmia (midline Cyclops eye sometimes); Microcephaly; Severe MR; Polydactyly; Cleft lip and palate; Cardiac and renal defects; Umbilical hernias; Cutis aplasia

Question 6

Genetic cause of Edward’s syndrome? Presentation?

Answer 6

Trisomy 18; Severe MR; Prominent occiput; Micrognathia; Low-set ears; Short neck; Overlapping fingers; Heart defects; Renal malformations; Limited hip abduction; Rocker-bottom feet

Question 7

Mother with lupus, worry about baby with?

Answer 7

heart block

Question 8

Physical exam findings at birth with Fetal Alcohol Syndrome?

Answer 8

hypotonia, smooth philtrum, thin upper lip, and small palpebral fissures

Question 9

Name the syndrome: large ears, long face/mandible, dev delay and large testicles (after puberty)

Answer 9

Fragile X Syndrome

Question 10

Mechanism behind Fragile X?

Answer 10

excess number of trinucleotide repeats

Question 11

IQ in children with Turner’s?

Answer 11

normal