Signs and Syndromes Flashcards

1
Q

Di George Syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Wet lung disease

A

TTN, TRDN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Pneumonia Alba

A

syphilitic pneumonitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Focal hyperaeration syndrome

A

Wilson Mikity syndrome and BPD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Noonan’s syndrome

A

(+) lymphangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

pneumomediastinum (also continuous diaphragm sign)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Shaggy heart

A

pertussis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Heiner’s syndrome

A

milk allergy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Homman-Rich syndrome

A

pulmonary fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Surfactant B deficiency disease

A

pulmonary alveolar proteinosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Kartagener’s syndrome

A

degenerative cilia syndrome + situs inversus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Chediak Higashi syndrome

A

oculocutaneous albinism + cerebellar abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

McKusick metaphyseal dyostosis

A

cartilage hair hypoplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Langerhans syndrome

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Dumbbell tumor

A

neuroblastoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Floating teeth sign

A

histiocystosis X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Steeple sign/ funnel sign

A

croup

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Sandifer’s syndrome

A

head spasm and neck torticollis + seizure like

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Empty cervix sign

A

pyloric stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Carney’s triad

A

leiomyoblastoma + paraganglioma + pulmonary chondroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Rim sign

A

duplication cyst

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Windsock sign

A

colonic atresia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Shortened lead pipe colon

A

ulcerative colitis

24
Q

Alagille’s syndrome

A

arteriohepatic dysplasia

25
Q

Drash/ Denys-Drash syndrome

A

Wilm’s tumor + pseudohermaphroditism + nephritis

26
Q

Cobra head

A

ureterocoele

27
Q

Heinemann syndrome

A

non neurogenic neurogenic bladder

28
Q

Megacystis microcolon intestinal hypoperistalsis syndrome

A

large UB, small colon

29
Q

McKusick-Kaufman syndrome

A

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

30
Q

Wolman’s disease

A

calcium in the adrenals

31
Q

Blount’s disease

A

tibial bowing

32
Q

Wimberger’s sign

A

congenital syphilis

33
Q

Celery stalk appearance

A

CMV

34
Q

Caffeys

A

infantile cortical hyperostosis

35
Q

Kohlers disease

A

tarsal navicular necrosis

36
Q

Legg Calves Perthes disease

A

femoral capital epiphysis necrosis

37
Q

Frieberg’s disease

A

2nd metatarsal head necrosis

38
Q

Wimberger’s ring, Pelkan spurs

A

scurvy

39
Q

TAR syndrome

A

thrombocytopenia with absent radius

40
Q

Bonnevie-Ulrich syndrome

A

Turner’s syndrome in the neonate

41
Q

Albers- Schomberg disease

A

osteopetrosis/ marble disease

42
Q

Jeune’s disease

A

asphyxiating thoracic dystrophy

43
Q

Kniest’s syndrome

A

retinal detachment deafness and bony dysplasia

44
Q

Hutchinson-Gilford syndrome

A

progeria

45
Q

Engelmann-Camurati diasease

A

progressive diaphyseal dysplasia

46
Q

Pyle’s disease

A

metaphyseal dysplasia

47
Q

Seckel syndrome

A

bird ehaded dwarf

48
Q

Goldenhar’s syndrome

A

oculoauriculo vertebral syndrome

49
Q

Soto syndrome

A

cerebral gigantism

50
Q

Taybi Linder syndrome

A

cephalo skeletal dysplasia

51
Q

Aarskog syndrome

A

facial digital genital syndrome

52
Q

Melnick Needles syndrome

A

osteodysplasia

53
Q

Swachman diamond syndrome

A

MMN syndrome

54
Q

Gideon syndrome

A

tricho-rhino-phalangeal syndrome

55
Q

Long horn, happy moose sign

A

agenesis of the corpus callosum