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All medical-genetics Cases

Angiogram of liver tumor

The imaging showed findings consistent with arterial phase enhancement with subsequent washout. Given the patient’s underlying liver disease, the tumor ...

21911

painful erythema over the neck and face

53 years old male presents with this no painful erythema well-spread over his neck and face.continuous presenting symptoms from about ...

26396

Flaccid triphalangeal thumb in Holt Oram syndrome

7 week old with typical signs and symptoms of which syndrome?

2944143

Small bowel in an omphalocele in a newborn

newborn male infant found on exam to have small #Omphalocele. This was not noted at delivery. Infant was fed (breastmilk) ...

2592131

Human papilloma virus warts on the knee

13 yo female with skin lesions for a year, initially treated with 3 sessions of cryotherapy and then a unknown ...

427518

Osteopetroses on x-ray

a few months old female with fetal alcohol syndrome and something else. Ideas?

216644

CT of acute on chronic subdural hematoma

Vomiting,coma. Anticoagulation with Warfarin. INR 4,0

133528

cutaneous manifestations of hypoalbuminemia

59 y/o, male; states it's been 2 years since the lymphedema started. Other conditions that the patient has: cirrhosis, esophageal ...

203732

lymphoepithelioma like thymic carcinoma in histopathology

this is are H&E slides of a cell block from the pleural fluid of a 61/F presenting with masses in ...

1710

Niemann Pick disease with massive hepatospleenomegaly

14 mo. old female baby with mentally retardation, massive hepatosplenomegaly, wasted limps and hypotonia. There is positive family history of ...

2710895

Osteopetroses on x-ray

Follow up skeletal survey images of female with #Osteopetroses

192631

ST313 Salmonella typhimurium

Scientists from the State University of São Paulo (Unesp), PASIQUIBAC Laboratory at the Faculty of Pharmaceutical Sciences of Araraquara, with ...

31414

Meningioma on MRI T1

38 yo m presents to ER for complaints of headaches for multiple months, worse in the morning. Examination reveals multiple ...

124932

Bronchiectasis on chest CT

There is extensive varicoid bronchiectasis throughout the lungs. Cystic fibrosis is the most common lethal inherited disease in Caucasians. Most ...

31025

Ectrodactyly

30 year old female with incidental hand and feet deformity seen at a medical mission clinic

1062150

Heparin-induced thrombocytopenia

Female 71 years old with mediastinal neoplasm infiltrating the superior vena cava and right atrium (histology: thymoma type A). Clinical ...

67201194

pruritic pre-tibial lesions and pitting edema on upper limb

pt presented with intensely pruritic pre-tibial lesions and pitting edema. Spread over three days to lesions noted on arms and ...

152242

Macrophage consuming red blood cells

This toddler presented with familial #Hemophagocytic-lymphohistiocytosis and underwent a matched allogeneic #Bone-marrow-transplant from her father. Image 1 shows a macrophage ...

3624

Iris in albinism on slit lamp examination

Here's a slitlamp photo of the #Iris of a patient with #Albinism. In this retroillumination technique, light is directed through ...

91389

Turner's Syndrome on fetal ultrasound

patient came for an 11-13 week NT scan. Incidental findings on cystic #Hygroma measuring 6.8mm. Patient then went for genetic ...

2347202

Choroidal hemangioma on fundoscopy in Sturge Weber syndrome

11 month old with right sided port-wine stain and no neuro sx. Followed without diagnosis of sturge-weber. Finally referred to ...

4557

Pneumomediastinum and retropharyngeal air on x-ray

healthy 16 yo male with acute onset of neck and chest pain yesterday. Came to ED and had crepitus in ...

284743

Hydrocephalus and bulging fontanelles

2 mo old female presents for well exam with concern regarding head shape. Infant was last seen at 4 days ...

35439

Congenital trigger thumb and interphalangeal joint of left thumb on x-ray

16 month old female with limited rom of the IPJ of the left thumb. Parents noticed it when trimming fingernails. ...

7914

Beckwith-Wiedemann syndrome in ultrasound

Fraternal female twin induced at 36 wks 3 days gestation (6lbs 7oz). Macroglossia visible via ultrasound & twin had polyhydramnios. ...

16227440

Nephrolithiasis and nail colouration

22 yr old female with history of seizures, #Nephrolithiasis , #Gallstones , #Psychiatric-disorders such as anxiety, #Self-mutilation , #Mental-status alterations, ...

113750

Lower abdominal and pelvic pain on x-ray

this is a 9 yo old middle eastern female who presents with lower abd/pelvic pain that is relieved by using ...

199468

Elevated lactic acidosis and joint and muscle pain and cole sensitivity fatigue

hx of autoimmune disease synthroid for #Hypothyroidism and humera for uc ... Ischemic forearm test indicates resting lactic acid was ...

414110

Bilateral aniridia and foveal hypoplasia

24 year old male presents for first eye exam ever. Had aniridia in both eyes. Pictured are his (non-dilated!) eyes ...

74879

Luminal A spindled areas and breast carcinoma

#Breast-cancer #Carcinoma not otherwise specified - spindled areas (genetic association?) 84 yo woman, previous thyroid papillary carcinoma and endometrial endometriod ...

72515
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