Signs and Syndromes

Question 1

Di George Syndrome

Answer 1

hypoplasia of the thymus; PTA, (-) parathyroid gland

Question 2

Wet lung disease

Answer 2

TTN, TRDN

Question 3

Pneumonia Alba

Answer 3

syphilitic pneumonitis

Question 4

Focal hyperaeration syndrome

Answer 4

Wilson Mikity syndrome and BPD

Question 5

Noonan’s syndrome

Answer 5

(+) lymphangiectasia

Question 6

Angel’s wings, spinnaker, sail sign and rockerbottom thymus

Answer 6

pneumomediastinum (also continuous diaphragm sign)

Question 7

Shaggy heart

Answer 7

pertussis

Question 8

Heiner’s syndrome

Answer 8

milk allergy

Question 9

Homman-Rich syndrome

Answer 9

pulmonary fibrosis

Question 10

Surfactant B deficiency disease

Answer 10

pulmonary alveolar proteinosis

Question 11

Kartagener’s syndrome

Answer 11

degenerative cilia syndrome + situs inversus

Question 12

Chediak Higashi syndrome

Answer 12

oculocutaneous albinism + cerebellar abnormalities

Question 13

McKusick metaphyseal dyostosis

Answer 13

cartilage hair hypoplasia

Question 14

Langerhans syndrome

Answer 14

hypopalstic lung (acquired) 2’ to obliterative bronchiolitis 2’ to adenovirus

Question 15

Dumbbell tumor

Answer 15

neuroblastoma

Question 16

Floating teeth sign

Answer 16

histiocystosis X

Question 17

Steeple sign/ funnel sign

Answer 17

croup

Question 18

Sandifer’s syndrome

Answer 18

head spasm and neck torticollis + seizure like

Question 19

Empty cervix sign

Answer 19

pyloric stenosis

Question 20

Carney’s triad

Answer 20

leiomyoblastoma + paraganglioma + pulmonary chondroma

Question 21

Rim sign

Answer 21

duplication cyst

Question 22

Windsock sign

Answer 22

colonic atresia

Question 23

Shortened lead pipe colon

Answer 23

ulcerative colitis

Question 24

Alagille’s syndrome

Answer 24

arteriohepatic dysplasia

Question 25

Drash/ Denys-Drash syndrome

Answer 25

Wilm’s tumor + pseudohermaphroditism + nephritis

Question 26

Cobra head

Answer 26

ureterocoele

Question 27

Heinemann syndrome

Answer 27

non neurogenic neurogenic bladder

Question 28

Megacystis microcolon intestinal hypoperistalsis syndrome

Answer 28

large UB, small colon

Question 29

McKusick-Kaufman syndrome

Answer 29

polydactyly + vaginal atresia +/- imperforate anus +/- sacral dysgenesis +/- esophageal/ duodenal atresia +/- CHD +/- malrotation

Question 30

Wolman’s disease

Answer 30

calcium in the adrenals

Question 31

Blount’s disease

Answer 31

tibial bowing

Question 32

Wimberger’s sign

Answer 32

congenital syphilis

Question 33

Celery stalk appearance

Answer 33

CMV

Question 34

Caffeys

Answer 34

infantile cortical hyperostosis

Question 35

Kohlers disease

Answer 35

tarsal navicular necrosis

Question 36

Legg Calves Perthes disease

Answer 36

femoral capital epiphysis necrosis

Question 37

Frieberg’s disease

Answer 37

2nd metatarsal head necrosis

Question 38

Wimberger’s ring, Pelkan spurs

Answer 38

scurvy

Question 39

TAR syndrome

Answer 39

thrombocytopenia with absent radius

Question 40

Bonnevie-Ulrich syndrome

Answer 40

Turner’s syndrome in the neonate

Question 41

Albers- Schomberg disease

Answer 41

osteopetrosis/ marble disease

Question 42

Jeune’s disease

Answer 42

asphyxiating thoracic dystrophy

Question 43

Kniest’s syndrome

Answer 43

retinal detachment deafness and bony dysplasia

Question 44

Hutchinson-Gilford syndrome

Answer 44

progeria

Question 45

Engelmann-Camurati diasease

Answer 45

progressive diaphyseal dysplasia

Question 46

Pyle’s disease

Answer 46

metaphyseal dysplasia

Question 47

Seckel syndrome

Answer 47

bird ehaded dwarf

Question 48

Goldenhar’s syndrome

Answer 48

oculoauriculo vertebral syndrome

Question 49

Soto syndrome

Answer 49

cerebral gigantism

Question 50

Taybi Linder syndrome

Answer 50

cephalo skeletal dysplasia

Question 51

Aarskog syndrome

Answer 51

facial digital genital syndrome

Question 52

Melnick Needles syndrome

Answer 52

osteodysplasia

Question 53

Swachman diamond syndrome

Answer 53

MMN syndrome

Question 54

Gideon syndrome

Answer 54

tricho-rhino-phalangeal syndrome

Question 55

Long horn, happy moose sign

Answer 55

agenesis of the corpus callosum