Questions you always get wrong

Rank the following conditions by their de novo mutation rate, with the 1st one being the highest rate of de novo mutations and the last one being the lowest.

NF

TSC

Hereditary Hemorrhagic Telangiectasia

Duchenne muscular dystrophy

TSC → NF → DMD → Hereditary Hemorrhagic Telangiectasia

What conditions have CALMs?

Russel silver syndrome

NF1

McCune Albright

Noonan syndrome

Legius syndrome

Watson syndrome

Beckwith-Wiedemann

Noonan syndrome primary feature?

pulmonic stenosis

Cornelia de Lange primary feature?

upper limb defects, synophrys

Russel-silver syndrome primary feature?

head-sparing short stature, CALMs, leg length disparity

Diastrophic dysplasia primary feature?

micromelic dwarfism, cauliflower ears, hitchhiker thumb

stickler syndrome primary feature?

dysmoprhic facial features, eye abnormalities, hearing loss, cleft palate

what conditions are responsive to growth hormone therapy?

RSS

SHOX

PWS

Which of the following conditions are associated with syndromic dilated cardiomyopathy? Choose all that apply.

Fabry disease

Duchenne muscular dystrophy

Carvajal syndrome

Pompe disease

Duchenne muscular dystrophy

Carvajal syndrome

Note: Fabry and pompe are associated with hypertrophic cardiomyopathy (HCM)

The most common presentation of Brugada syndrome is syncope.

True

False

False

Note: most common presentation is sudden death

Which phenotype best describes an individual with Loeys Dietz?

Arachnodactyly, retrognathia, proptosis, blue sclera, velvety, translucent skin, aortic aneurysm

Joint laxity, blue sclera, ectopia lentis, poor wound healing, joint dislocation

Joint hypermobility, blue sclera, frequent fractures, hearing loss

Arachnodactyly, retrognathia, proptosis, blue sclera, velvety, translucent skin, aortic aneurysm

The most common initial presentation of polycystic kidney disease is multiple kidney and/or liver cysts.

True

False

False

Note: Most patients initially present with chronic hypertension, renal insufficiency/failure and/or a history of intracranial aneurysm/stroke. The cysts usually discovered afterwards.

which of the following conditions are or can be inherited in an x-linked manner?

fragile x syndrome

nf1

rett syndrome

hemophilia A

fragile x

rett syndrome

Match the microdeletion syndrome with its defining characteristic.

Williams syndrome

Smith-Magenis syndrome

Cri du chat syndrome

Wolf-Hirschorn syndrome

Greek warrior helmet appearance

High pitched crying

“Cocktail party personality”

Inverted circadium rhythm of melatonin

Williams syndrome - Cocktail party personality

Smith-Magenis syndrome - Inverted circadian rhythm of melatonin

Cri du chat syndrome - High pitched crying

Wolf-Hirschorn syndrome - Greek warrior helmet appearance

A patient who presents to the ED with an intracranial stroke should be worked up for which of the following condition(s)?

Hereditary Hemorrhagic Telangiectasia

Spinocerebellar ataxia

Tuberous sclerosis

Polycystic kidney disease

Hereditary Hemorrhagic Telangiectasia

Polycystic kidney disease

Which of the following phenotypes is likely to be clinically benign?

Hb SS disease

Hb SC disease

Hb CC disease

Hb Bart disease

Hb SS = sickle cell

Hb SC = less severe sickle cell

Hb Bart = fetal hydrops

Hb CC = insignificant

What is the most common initial presentation for an individual with a hereditary thrombophilia?

deep vein thrombosis (DVT)

Match the hearing loss condition with the associated gene(s).

GJB2-related hearing loss

Jervell and Lange-Nielsen syndrome

Branchio-ot-renal syndrome

Alport syndrome

Neurofibromatosis type 2

Waardenburg syndrome

PAX3; MITF; SNAI2; EDEN3; EDNRB; SOX10

NF2

EYA1; SIX1; SIX5

KCNQ1; KCNE1

GJB2

COL4A3; COL4A4; COL4A5

GJB2-related hearing loss - GJB2

Jervell and Lange-Nielsen syndrome - KCNQ1; KCNE1

Branchio-ot-renal syndrome - EYA1; SIX1; SIX5

Alport syndrome - COL4A3; COL4A4; COL4A5

Neurofibromatosis type 2 - NF2

Waardenburg syndrome - PAX3; MITF; etc.

Match the hearing loss condition with the defining feature.

Alport syndrome

Branchio-oto-renal syndrome

Jervell and Lange-Nielson syndrome

Pendred syndrome

Usher syndrome

Waardenburg syndrome

Stickler syndrome

Osteogenesis imperfecta

Fractures with minimal or absent trauma

Midface hypoplasia; high myopia; cleft palate

Pigmentary differences

Progressive retinitis pigmentosa

Thyroid enlargement with inner ear abnormalities

Prolonged QT

Neck cysts; renal malformations; ear malformations

Renal disease

Alport syndrome - renal disease

Branchio-oto-renal syndrome - neck cysts; renal malformations; ear malformations

Jervell and Lange-Nielson syndrome - prolonged QT

Pendred syndrome - thyroid enlargement with inner ear abnormalities

Usher syndrome - progressive retinitis pigmentosa

Waardenburg syndrome - pigmentary differences

Stickler syndrome - midface hypoplasia; high myopia; cleft palate

Osteogenesis imperfecta - fractures with minimal or absent trauma

joubert syndrome primary feature?

molar tooth sign on MRI

Which of the following conditions are mosaic? Select all that apply/

Proteus syndrome

Beckwith-Wiedemann syndrome

Sotos syndrome

PIK3CA-related overgrowth spectrum

Proteus syndrome

Beckwith-Wiedemann syndrome

PIK3CA-related overgrowth spectrum

Which of the following skin disorders are associated with an increased risk for cancer? Select all that apply.

Oculocutaneous albinism

Werner syndrome

Ichthyosis vulgaris

Xeroderma pigmentosum

Hypohidrotic ectodermal dysplasia

Epidermolysis bullosa

Oculocutaneous albinism

Werner syndrome

Xeroderma pigmentosum