1Digeorge Syndrome is a genetic condition caused by _____ resulting in...
- Deletion in the 22q11.2 Gene
- in absence or hypoplasia of the parathyroid gland which can lead to hypocalcemia resulting in seizures
2Digeorge Syndrome S/S mnemonic
CATCH- 22
C- Cardiac
A- Abnormal Facies
T- Thymus hypoplasia
C- Cleft palate
H- Hypocalcemia
3Dysmorphic facial features characteristic of DiGeorge syndrome include _______. ______ is common in infancy
- low-set ears, micrognathia, and hypertelorism
- Hypotonia
4Digeorge Syndrome lab results
- Reduced T cell number/function
- Hypocalcemia
- Low parathyroid hormone levels
5Achondroplasia is a ______ genetic d/o caused by ______; resulting in _____
- Autosomal dominant
- Gain of function mutation in FGFR3 gene
- Dwarfism w/ disproportionate short stature --> Norm. torso, short limbs, norm.-large head (macrocephaly) w/ prominent forehead
6Complications of Achondroplasia include ______, Narrowing of ______ & _____, ______, ______, & ______
- Eustachian tube narrowing: recurrent middle ear infection
- Narrowing of Lumbar spinal canal ( spinal stenosis) & Foramen Magnum ( cervical medullary compression.
- Venous obstruction at sigmoid sinus: hydrocephalus
- Midface retrusion: OSA
- Obesity
7Achondroplasia prenatal US will show...
Skull width to femur length ration higher than normal
8_____ is a new tx for achondroplasia that's used to ________
- Voxzogo
- Inc. height
9Alagille syndrome is an ________ genetic d/o caused by ______ that results in _______, ______, _____, _____, & ______ defects
- Autosomal dominant
- JAG1 or NOTCH2 gene deletion/mutation
- Liver, skeletal, ocular, cardiac, & renal
10Diagnostic imaging for Alagille syndrome include ______ that shows _______ & _____ that shows _____
- Spinal Xray: Butterfly shaped vertebrae, hemivertebrae, & spinabifida occulta
- Abdominal US: kidneys- small, echogenic, cysts present, ureteropelvic obstruction
11Alagille syndrome lab results
- Inc. bilirubin (total, conjugated)
- Inc. liver enzymes
- Inc. cholesterol
12Beckwith-Wiedemann Syndrome is caused by abnormal _______
- Methylation at chromosome 11p15.5
13Beckwith-Wiedemann Syndrome increses the risk of _____, ______, and other _____
- Wilms Tumor, Hepatoblastoma, and other tumors
14Angelman syndrome is a genetic ______ d/o caused by _______, _______, or _______
- Maternal 15q11-q13 deletion
- Loss of function of UBE3A
- Paternal uniparental disomy 15 (both copies of chromosome 15 from father)
15Which of the following characteristics are associated with the diagnosis of Williams syndrome?
Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (pp. 1445-1446). Wolters Kluwer Health. Kindle Edition.
Hypertelorism, long philtrum, wide mouth, small upturned nose cardiac defects including aortic stenosis and pulmonary stenosis.
16In providing genetic counseling for parents who are expecting an infant who has a prenatal diagnosis of trisomy 18, most important information should include:
Life expectancy is typically not beyond 1 year of life.
17In planning discharge for a toddler with DiGeorge syndrome, which of the following should be included in the cont. management plan?
- Hearing screen. increased risk of developing conductive hearing loss due to cleft palate and recurrent otitis media.
18A newborn with DiGeorge syndrome presents with cyanosis, hypoxia, and poor perfusion. What is the most likely cause of these symptoms?
Tetralogy of Fallot
199. A school-age boy presents with speech delays, aggressive behavior, a long face with prominent jaw, and macroorchidism. What disorder should be included in your differential diagnoses?
Fragile X syndrome.
20A 3-week-old infant is born with anal atresia, esophageal atresia, and malformations of both arms. This combination of malformations is most likely to be:
VACTERL/VATER association.
21CHARGE syndrome is a genetic pattern of birth defects which include
- coloboma of the eyes, choanal atresia or stenosis, cranial nerve involvement, outer, inner, and middle ear abnormalities, cardiac defects, cleft lip and palate
- hearing loss and outer ear abnormalities, such as the outer ear appearing wide, low, and with no earlobe