Congenital Malformations and Chromosomal Anomalies

Question 1

A female infant has slanted palpebral fissures, epicanthal folds and some delayed development.

Answer 1

Down Syndrome

Question 2

What things are Down Syndrome patients at increased risk for?

Answer 2

Subendocardial cushion defect

Duodenal atresia, Hirschprungs disease, imperforate anus

Hypothyroid

Early onset dementia

ALL, AML

Atlantoaxial dislocation & cervical cord compression

Question 3

What are s/sx of Trisomy 18? What is the most common cause of death?

Answer 3

Prominent occiput

Low set ears, small mouth

Thumb/radius agenesis

Seizures

Apnea is the most common cause of death

Question 4

What are s/sx of Trisomy 13 (Pataus)?

Answer 4

Holoprosencephaly

Midline facial cleft

Cystic kidneys

Rocker-bottom feet

Question 5

Turner’s Syndrome 45 XO

Answer 5

Short, female

Webbed neck

Inc. distance between nipples

Pedal edema

Ovarian dysgenesis

Coarctation of the aorta

Question 6

What 4 things do you do for Turner’s Syndrome patients?

Answer 6

Exogenous GH

Induce puberty

Monitor for autoimmune hypothyroidism

Resect intra-abdominal gonads

Question 7

Klinefelter’s Syndrome (extra Xs: 47XXY, 48 XXXY)

Answer 7

Tall, male w/ female hair distribution

Azoospermia (testosterone during puberty)

Learning disability

Question 8

Angelman’s Syndrome

Answer 8

75% due to maternal deletion 15q11 -> q13

Happy w/ flapping hands, attractive light pigment

MR, epilepsy, complete absence of speech

Question 9

Prader-Willi Syndrome

Answer 9

75% paternal deletion 15q11 -> 13q

Hyperphagia (obsessions/compulsions) Obese

Mild MR, lighter pigment

Fluent speech, behavior problems

**Strict diet and GH

Question 10

XYY males

Answer 10

Inc. frequency in jail

Tall, normal/low-normal intelligence

Question 11

XXX Syndrome

Answer 11

Maternal meiotic nondisjunction

Normal

Varied speech/language delay

Gangly/tall, behavior disorders

Question 12

If a patient appears to be similar to Turner’s Syndrome but has a normal karyotype what is it?

Answer 12

Noonan’s Syndrome - AD Ch 12

Question 13

Fragile X Syndrome - XLD

Answer 13

MR

Macroorchidism

Protruding ears, triangular/long facies

Shy/autistic behavior

Question 14

Alport Syndrome (XLR)

Answer 14

Basement membrane of kidneys/eye/ear

Glomerulonephritis, ESRD by 40

Hearing loss

Question 15

How might a female be affected by a XLR condition?

Answer 15

Lyonization - X chromosome lyonizes randomly early in embryogenesis

Question 16

Clefting of lip and anterior/primary palate due to defect in the fusing of ________ processes with the ____________ processes during weeks 5 & 6.

Answer 16

Maxillary with Frontonasal

Question 17

Clefting of posterior/secondary palate due to defect in fusion of ___________ during weeks 7 & 8.

Answer 17

Palatal shelves

Question 18

When do you repair a cleft lip and palate?

Answer 18

Lip: 1st months of life

Palate: 1 year

Question 19

Potter’s Syndrome

Answer 19

Bilateral renal agenesis (oligohydramnios)

Pulmonary hypoplasia

Skeletal anomalies

Flat nose, recessed chin, floppy ears

Question 20

How do you manage a patient with hypospadias?

Answer 20

No circumcision

Surgically extend urethra to end of penis before 18 months

Chordae repair for sexual function