Genetics

Question 1

Beckwith wiedemann syndrome

Answer 1

Disorder of genomic imprinting
Macrosomia
Large for gestational age
Macroglossia
Hemihypertrophy
Visceromegaly
Omphalocele
Transient neonatal hypoglycemia
Increased risk for Wilms, tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma

Question 2

Alagille syndrome

Answer 2

Mutations in jag1 or notch2 genes
Deficiency of inter-lobular bile ducts
Classic presentation in for six months
Can have congenital, heart disease, butterfly, vertebrae, dysmorphic facies, renal, dysplasia, poor growth, developmental delay

Question 3

Shwachman diamond syndrome

Answer 3

Poor growth
Pancytopenia
Multiple episodes of otitis media
Easy bruising
Pneumonia

Bone marrow failure multi system disorder

Question 4

Long term outcomes of Schwachman diamond syndrome

Answer 4

MDS
AML

Question 5

Sturge Weber syndrome

Answer 5

Facial vascular malformation with associated leptomeningeal angiomas involving the brain and eye
50% risk for developing glaucoma

Question 6

Williams syndrome

Answer 6

Hypercalcemia
Autosomal dominant disorder
Elfin like facial features
Long philtrum
Prominent
Mandibular hypoplasia
Stellate pattern in iris
supravalvular, aortic stenosis
Intellectual disability

Question 7

Tuberous sclerosis

Answer 7

Cardiac rhabdomyoma’s