Sirenomelia

KEY FACTS Terminology Synonym: Mermaid syndrome Definition: Lower extremity fusion + other skeletal, gastrointestinal, and genitourinary abnormalities You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Meckel-Gruber Syndrome

KEY FACTS Terminology Syndrome composed of classic triad of findings Renal cystic dysplasia in 95-100% Encephalocele or other central nervous system (CNS) abnormality in 90% Postaxial polydactyly in 55-75% Should have at least 2 of 3 classic features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Triploidy

KEY FACTS Terminology Synonym: Partial mole Definition: 69 chromosomes (instead of 46) Most common is diandric triploidy (extra set is paternal) Digynic triploidy if extra set is maternal You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here