Syndromes Flashcards by Zach Nuffer

Susac

Cochlea, retina, brain involvement

Microinfarcts

Central corpus callosum “snowball”

Looks like MS

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Holt Oram

Absent thumb, ASD

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Osteogenesis Imperfecta

Lucent skull

Blue sclera

Deafness

Wormian bones

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Pyknodysostosis

Osteosclerosis

Wormian bones

Acro-octeolysis

Dwarfism

Wide-angled mandible

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Parinaud

Compression of tectal plate → vertical gaze palsy

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Mazabraud

Polyostotic fibrous dysplasia + soft tissue myxomas

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McCune-Albright

Polyostotic fibrous dysplasia + cafe au lait spots + precocious puberty

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Jaffe-Campanacci

Nonossifying fibromas (NOF) + cafe au lait spots

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Caffey

< 5 yrs, mandible, ribs, clavicle, long bones hyperostosis

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Currarino

Sacral dysgenesis

Presacral teratoma

Anorectal malformations

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Gardner

FAP, familial adenomatous polyposis

Facial osteoma

Abdominal desmoid

Papillary Thyroid cancer

Hepatoblastoma

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PHACES

Posterior fossa (Dandy Walker)

Hemangiomas

Arterial Anomalies

Coarctation, Cardiac defects

Eye abnormalities

Subglottic hemangioma

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Kleinfelters

Breast cancer

Seminomas

Gynecomastia

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VACTERL

Vertebral anomalies

Anal imperforate

Cardiac

TE fistula

Renal

Limb (absent radius)

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Swachman-Diamond

Fatty replacement of pancreas

Dwarfism

Diarrhea

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Dorsal Pancreatic Agenesis

Pancreas without a tail

Polysplenia

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Potter Sequence

No kidneys → no pee → no fluid → hypoplastic lungs

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Alagille

Hereditary cholestasis from paucity of bile ducts

DDx in atresia, biopsy before Kasai procedure

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Prune Belly (Eagle Barrett)

Poor abdominal musculature

Hydroureteronephrosis

Cryptorchidism

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Beckwith+Wiedemann

Medullary sponge kidney, Wilms, Hepatoblastoma, Omphalocele, Hemihypertrophy, cardiac

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Sotos

Macrocephaly, retarded

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WAGR

Wilms, aniridia, genital, growth retardation

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Deny-Drash

Wilms, Pseudohermaphroditism, progressive glomerulonephritis

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Peutz-Jegher

Sertoli cell tumors

Small bowel hamartomas

Mucocutaneous pigmentation

GI and GYN cancers

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Mucopolysaccharidoses

Oval-shaped vertebral bodies (bullet) with anterior beak Canoe -paddle ribs Hand x-ray shows wide metacarpal bones with proximal tapering

Gauchers

AVN femoral heads H-shaped vertebra Bone infarcts Erlenmeyer flask-shaped femurs Splenomegaly

Proximal Focal Femoral Deficiency

Absent/hypoplastic proximal femur mimicking DDH and leading to varus deformity

CHARGE

Coloboma Heart defect Atresia choanae Restricted growth and development Genital abnormality Ear abnormality

Carney's Triad

Chondroma Extra adrenal pheos GIST

Carney Complex

Cardiac myxoma Skin pigmentation + Lots of other shit

Turcots

FAP Gliomas and Medulloblastomas

HNPCC (Lynch)

Cancer of everything

Cowden

Breast Ca Thyroid Ca Lhermitte-Duclos

Ehlers Danlos

Medullary sponge kidney Hutch diverticulum

Zinner

Renal agenesis Ipsilateral seminal vesicle cyst

Turner's

Nuchal hygroma

Wolman

Bilateral enlarged calcified adrenals - fatal

Hermansky-Pudlak

Lungs are fucked

DiGeorge

Tetralogy of Fallot

Parry Romberg

facial atrophy

Apert

Brachycephaly syndactyly

Madelung Deformity

radius too long, bows radially

Nail-Patella

hypoplastic or absent patella, hypoplastic radial head/capitellum, posterior iliac horns, protuberant anterior iliac spines

Macrodystrophia Lipomatosa

localized gigantism

Pachydermoperiostosis

primary HOA without lung dz

Poems

Myeloma with sclerotic mets

Felty

RA > 10 yrs. Splenomegaly Neutropenia

Caplan

RA + pneumoconiosis

Engelmann

Bilateral symmetric long bone sclerosis and bony enlargement which is hot on bone scan Can cause optic nerve compression

Hurst (acute hemorrhagic leukoencephalitis)

Fulminant form of ADEM w/ brain swelling and death

Devics

Transverse myelitis Optic neuritis

Marburg Variant

Childhood MS variant that has a fetal prodrome and leads to rapid death

SUBCORTICAL ARTERIOSCLEROTIC ENCEPHALOPATHY (BINSWANGER)

Multi-infarct dementia that only involves the white matter Secondary to hypertension

CADASIL (CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY with SUBCORTICAL INFARCTS and LEUKOENCEPHALOPATHY)

Presents w/ migraines Involves frontal and temporal lobes

GORLIN (basal cell nevus syndrome)

Medulloblastoma with Dural calcifications basal cell skin cancer

Crouzons

Brachycephaly Maxilla and mandible hypoplasia

Cleidocranial Dysostosis

Brachycephaly Wormian bones Absent clavicles

Grisels

Torticollis w/ atlantoaxial joint inflammation seen in H&N surgery or retropharyngeal abscess

Coats

Retinal telangiectasia which can lead to detachment (V). NO calcifications

PHEMISTER TRIAD (TB arthropathy)

Juxtarticular osteopenia/osteoporosis peripheral osseous erosions gradual narrowing of joint space

Syndromes Flashcards

(60 cards)