Syndromes Caffey

Question 1

Connective tissue disorder

Joint and skin hyperextensibility, excessive bruisability, blood vessel fragility and poor wound healing

Answer 1

Ehlers-Danlos syndrome (EDS)

Autosomal dominant
Muations in COL3A1 gene coding type III collagen

Question 2

MC cardiovascular anomaly in ehlers-danlos syndrome

Answer 2

Mitral valve prolapse

Question 3

Autosomal dominant disorder of connective tissue caused by mutations in the FBN 1

Answer 3

Marfan syndrome

Question 4

35-100% of marfan pts develop

Answer 4

MVP

Question 5

More than 80% of marfan pts develop

Answer 5

Aortic root dilatation or mvp before 18yo

Question 6

Connectibe tissue disorder with dysregulation of TGF-B

Answer 6

Loeys-dietz syndrome

Elingated and tortuos large arteries, aneurysm formation and stenoses

Question 7

Loeys-dietz syndrome type 1

Answer 7

Craniofacial and vascular anomalies

Question 8

Loeys-dietz syndrome type 2

Answer 8

Bifid uvula but usually do not have other craniofacial anomalies

Question 9

Cafe-au-lait spots, axillary freckling, dermal and flexiform neurofibromas and learning disabilities

Answer 9

Neurofibromatosis1

Autosomal dominant

Question 10

Most common heart cardiovascular lesion of neurofibromatosis 1

Answer 10

Pulmonic stenosis

Question 11

Rib deformities in

Answer 11

NF1

Question 12

Hamartomas of multiple organs

Seizures, cognitive impairment and skin lesions

Answer 12

Tuberous sclerosis

Question 13

Mc pediatric cardiac tumors and 70-90% are associated with tuberous sclerosis

Answer 13

Cardiac rhabdomyomas

Earliest finding of tuberus sclerosis in utero-utz

Question 14

Mc cardiac defect in noonas

Answer 14

Pulmonary stenosis

Question 15

Webbed neck, short stature, cardiac anomalies, deafness, motor delays and mild cognitive impairement

Answer 15

Noonan syndrome

Question 16

CATCH 22

Answer 16

DiGeorge syndrome

Question 17

Mc cardiac anomalies in de george

Answer 17

Truncus arteriosus and interruption of the aortic arc
Tof
Aberant subclavian artery

Question 18

Mc genetic anomaly associated with congenital heart disease

Answer 18

Trisomy21

AVSD/ endocardial cushion defect- MOst common

Question 19

Most severe of the viable trisomies

Answer 19

Trisomy 13 (patau syndrome)

ASD, VSD,PSA, dextrocardia and double outlet right ventricle

Question 20

Mc cardiac anomaly in trisomy 18 (edwards syndrome)

Answer 20

VSD

Question 21

Monosomy X, XO

Webbed neck,shield chest, shirt stature, gonadal insufficiency and infertility

Answer 21

Turner syndrome

Question 22

Mc heart defect in turner syndrome

Answer 22

COA and bicuspid aortic calve

Question 23

47, XXY

Infertility, gynecomastia, hypogonadotropic hypogonadism, cognitive impairment and predisposition to malignancy

Answer 23

Klinefelter syndrome

Question 24

Mc cardiac anomaly in Klinefelter syndrome

Answer 24

MVP