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…
KEY FACTS Terminology Complex genetic disorder with principle features including macrosomia, macroglossia, and omphalocele 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
KEY FACTS Terminology Controversial as to etiology, but simplest concept is entrapment of fetal parts by disrupted amnion You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a…
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…
KEY FACTS Terminology Monosomy X is preferred term Definition: Complete or partial deficiency of X chromosome 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…
KEY FACTS 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
KEY FACTS Terminology Autosomal trisomy of chromosome 18 (T18) 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
KEY FACTS 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
KEY FACTS 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
KEY FACTS 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