Ch 10 - Peds: Genetics and Milestones

Question 1

Upward slant of palpebral fissures
Brushfield spots of iris
Protruding tongue
3rd fontanelle
Low-set auricles
Excess nuchal skin
Single palmar (simian) crease
Single flexion crease and incurving (clinodactyly) of 5fth fingers
Inc distance b/w 1st and 2nd toes
Mottling of skin
Hypotonia
CHD such as endocardial cushion defect, ventricular septal and VSD

Answer 1

What are signs of Trisomy 21 (Down syndrome)?

Question 2

IUGR
Short palpebral fissures
Small mouth
Micrognathia
Low-set ABN auricles
Prominent occiput
Short sternum
2nd digit overlapping 3rd and 4th over 4th
Hypoplastic fingernails
Rocker-bottom feet
CHD
Spasticity
Feeding problems/ failure to thrive

Answer 2

What are signs of Trisomy 18 (Edward’s syndrome)?

Question 3

IUGR in all 3 parameters
Coloboma of iris (pupil of keyhole shape)
Capillary hemangioma
Skin defect of skull
Hyperconvex nails
Polydactyly
Rocker-bottom feet
Arrhinencephaly
Cleft lip and palate
CHD
Urinary tract
ABN

Answer 3

What are signs of Trisomy 13 (Patu’s syndrome)?

Question 4

Short stature
Triangular face
ABN shape of ears
Webbed neck
Broad “shield” chest
Wide-set nipples
Congenital lymphedema of hands and feet
Shortened 4th and 5th metacarpals and metatarsals
Cubitus valgus
Primary amenorrhea
CHD especially coarctation of aorta
Mostly normal IQ
Infertility

Answer 4

What are signs of Turner’ syndrome (45,X)?

Question 5

Tall stature
Post-pubertally small testicles
Gynecomastia
Eunuchoid build
Inc risk for mild MR
Learning and behavior problems
Infertility

Answer 5

What are signs of Klinefelter’s syndrome (47,XXY)?

Question 6

What prenatal diagnostic tests are included at 14-16 weeks pregnancy?

Answer 6

Amniocentesis

Question 7

What prenatal diagnostic tests are included at 9-10 weeks pregnancy?

Answer 7

Chorionic villi sampling

Question 8

What are the TORCHES infections?

Answer 8

Toxoplasmosis
Other agents such as varicella virus or parvovirus
Rubella virus,
Cytomegalovirus
Herpes virus/HIV
Syphilis

Question 9

When do the biggest changes in bone mass occur?

Answer 9

Girls: 12 to 15 yo
Boys: 14 to 17 yo

Question 10

What are the earliest markers of abnormal neurological maturation?

Answer 10

Obligatory or persistent primitive reflexes