Monday Morning Flashcards
Describe facial findings of Downs Syndrome
Oblique palpebral fissures
Simian crease
Big tongue
White spots on iris
Common medical complications of Downs?
VSD, endocardial cushion defects Hirschsprung’s, intestinal atresia, imperforate anus, annular pancreas Hypothyroidism Atlanto-axial instability Incr risk of Alzheimer’s by 30-35. (APP is on Chr21) 10x increased risk of ALL
Patient with speech, gross motor and fine motor skill delay.
Downs Syndrome
Rocker-bottom feet
Microcephaly
Omphalocele
Edward’s - 18
Holoprosencephaly
Microcephaly
Cleft lip/palate
Palau’s - 13
Start stature
No breast development at age 14
High FSH
Assoc anomalies?
Turner’s - XO
Horseshoe kidney
Coarctation of aorta
Bicuspid aortic valve
18yo w/ mild MR
Tall, lanky
Complaining of gynecomastia
Complications x2?
Klinefelter’s syndrome XXY
- hypogonadism so infertile
- increased risk gonadal malignancy
Smooth philtrum
Thin upper lip
Fetal Alcohol Syndrome
#1 cause MR
- also see Microcephaly
Macrocephaly
Macroorchidism
Large ears
Boys, MR
Fragile X Syndrome - #1 cause MR in boys
- CGG repeats on X-chromosome w/ anticipation
Deletion on:
- paternal chromo 15
- maternal chromo 15
Pat = Prader-Willi = aggression, skin picking
Mat = Angelman = happy angel, seizures, strabismus (cross eyed)
Cafe-au-lait spots
Seizures
Large head
Neurofibromatatosis
- autosomal dominant
3 week old with seizure
Truncus arteriosus
Micrognathia
DiGeorge Syndrome
- micro deletion on chromo 22
What infections seen w/ 22q?
Candida
Virus
PCP pneumonia
Infant w/ severe infections
No thymus
No tonsils
Severe lymphopenia
SCID - get bacterial, viral and bug infections
Pediatric emergency! Need bone marrow transplant by 1 year old or death!
Prolonged bleeding after circumcision
Now 18 months, severe eczema, petechiae
Recurrent ear infections
Wiscott-Aldrich Syndrome
- low IgM
- high IgA, IgE
- slightly low IgG
