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All medical-genetics Cases

Ectrodactyly

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

1062145

Heparin-induced thrombocytopenia

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

67200194

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 ...

3623

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 ...

91289

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 ...

284742

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. ...

16216434

Nephrolithiasis and nail colouration

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

113749

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 ...

74779

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

Agenesis of corpus callosum on MR diffusion tensor imaging

Agenesis of the corpus callosum on MR diffusion tensor imaging (DTI). Note the absence of transversely oriented callosum fibres (which ...

519122

chest xray cardiomegaly

This is baby 14 months old, who attends emergency with fever of 39 degrees, no dysenteric diarrhea and vomiting for ...

162549

Lipemia

Fasting plasma of a 54 y/o obese woman, collected for suspected hypothyroidism because of typical clinical signs and symptoms. But ...

294327

Invasive ductal carcinoma on mammogram

A 27-year-old, African American female presented with a right breast mass, palpable for one year. Given the patient’s age, an ...

174823

Varicose vein

28 yr old male varicose ant. Left Leg since 1 year.other sites normal .right leg normal

161910

Correction of sagittal craniosynostosis

treatment option for correction of sagittal #Craniosynostosis especially if the pt presents late when strip craniectomy is no longer a ...

123845

Keloids

15 yo male. Keloids. HX of asthma, severe acne, placed on TX of actuate w/success. Pt had his first keloid ...

312035

Hydrocephalus

horrible #Hydrocephalus on a pediatric neurology ward in Tanzania. Never have I seen the whole frontal bone separate all the ...

1221613

Rocker bottom foot

Rocker-bottom foot, or congenital vertical talus, is a rare deformity of the foot characterized by a prominent calcaneus and a ...

1380293

Healing abrasions on the knees from road rash

2 week old injuries suffered when driving 55 mph on a motorcycle and having a deer pop out in front ...

285599

Rib anomalies with pulmonary hypoplasia on Xray

34 week infant. Severe respiratory distress, rib anomalies and hypo plastic lungs. First picture 1 week old, second film at ...

3515170

Cherubism of the face

Cherubism is a rare genetic disorder in which maxillary and mandibular bone is replaced by fibrous tissue and bony cysts. ...

854180

Full body lichenification

whole-body dried, crusty, lichenification with cracking and bleeding that started at feet. What is it?

113243623

Syrian girl with a unilateral congenital skin condition

9 year girl recently arrived from Syria with this unilateral congenital skin lesion. She is otherwise healthy and has no ...

78198156
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