Genetics

Question 1

Beckwith-Wiedemann syndrome

Answer 1

macrosomia, enlarged tongue, neonatal hypoglycemia, ear creases and pits, hemihypertrophy, visceromegaly, umbilical hernia, embryonal tumors (neuroblastoma, hepatoblastoma, and Wilms tumor), omphalocele, nephrocalcinosis, medullary sponge kidney disease, cardiomegaly, and nephromegaly.

Question 2

Meckel-Gruber syndrome:

Answer 2

Occipital encephalocele, cleft lip and palate, microcephaly, microphthalmia, abnormal genitalia, polycystic kidneys, and polydactyly