Signs and Syndromes Flashcards
Di George Syndrome
hypoplasia of the thymus; PTA, (-) parathyroid gland
Wet lung disease
TTN, TRDN
Pneumonia Alba
syphilitic pneumonitis
Focal hyperaeration syndrome
Wilson Mikity syndrome and BPD
Noonan’s syndrome
(+) lymphangiectasia
Angel’s wings, spinnaker, sail sign and rockerbottom thymus
pneumomediastinum (also continuous diaphragm sign)
Shaggy heart
pertussis
Heiner’s syndrome
milk allergy
Homman-Rich syndrome
pulmonary fibrosis
Surfactant B deficiency disease
pulmonary alveolar proteinosis
Kartagener’s syndrome
degenerative cilia syndrome + situs inversus
Chediak Higashi syndrome
oculocutaneous albinism + cerebellar abnormalities
McKusick metaphyseal dyostosis
cartilage hair hypoplasia
Langerhans syndrome
hypopalstic lung (acquired) 2’ to obliterative bronchiolitis 2’ to adenovirus
Dumbbell tumor
neuroblastoma
Floating teeth sign
histiocystosis X
Steeple sign/ funnel sign
croup
Sandifer’s syndrome
head spasm and neck torticollis + seizure like
Empty cervix sign
pyloric stenosis
Carney’s triad
leiomyoblastoma + paraganglioma + pulmonary chondroma
Rim sign
duplication cyst
Windsock sign
colonic atresia
Shortened lead pipe colon
ulcerative colitis
Alagille’s syndrome
arteriohepatic dysplasia
Drash/ Denys-Drash syndrome
Wilm’s tumor + pseudohermaphroditism + nephritis
Cobra head
ureterocoele
Heinemann syndrome
non neurogenic neurogenic bladder
Megacystis microcolon intestinal hypoperistalsis syndrome
large UB, small colon
McKusick-Kaufman syndrome
polydactyly + vaginal atresia +/- imperforate anus +/- sacral dysgenesis +/- esophageal/ duodenal atresia +/- CHD +/- malrotation
Wolman’s disease
calcium in the adrenals
Blount’s disease
tibial bowing
Wimberger’s sign
congenital syphilis
Celery stalk appearance
CMV
Caffeys
infantile cortical hyperostosis
Kohlers disease
tarsal navicular necrosis
Legg Calves Perthes disease
femoral capital epiphysis necrosis
Frieberg’s disease
2nd metatarsal head necrosis
Wimberger’s ring, Pelkan spurs
scurvy
TAR syndrome
thrombocytopenia with absent radius
Bonnevie-Ulrich syndrome
Turner’s syndrome in the neonate
Albers- Schomberg disease
osteopetrosis/ marble disease
Jeune’s disease
asphyxiating thoracic dystrophy
Kniest’s syndrome
retinal detachment deafness and bony dysplasia
Hutchinson-Gilford syndrome
progeria
Engelmann-Camurati diasease
progressive diaphyseal dysplasia
Pyle’s disease
metaphyseal dysplasia
Seckel syndrome
bird ehaded dwarf
Goldenhar’s syndrome
oculoauriculo vertebral syndrome
Soto syndrome
cerebral gigantism
Taybi Linder syndrome
cephalo skeletal dysplasia
Aarskog syndrome
facial digital genital syndrome
Melnick Needles syndrome
osteodysplasia
Swachman diamond syndrome
MMN syndrome
Gideon syndrome
tricho-rhino-phalangeal syndrome
Long horn, happy moose sign
agenesis of the corpus callosum