Items tagged “congenital anomaly”
13 results found
Article
Congenital ossicular anomalies
Congenital anomalies of the ossicles are most frequently associated with external ear abnormalities also, although they can occur in isolation.
Clinical presentation
These anomalies result in conductive hearing loss.
Pathology
When bilateral, they are most frequently genetic with autosomal ...
Article
Phrygian cap
Phrygian caps are the most common congenital anatomic variant of the gallbladder. It denotes folding of the fundus back upon the gallbladder body and is asymptomatic with no pathological significance.
Radiographic findings
A Phrygian cap may be identified on ultrasound, multiphase CT/MRI, or c...
Article
Proximal femoral focal deficiency
Proximal femoral focal deficiency (PFFD) is a congenital partial absence of the proximal end of the femur with shortening of the entire lower limb. The diagnosis and classification have been based mainly on plain radiograph findings. This method does not permit definite classification during the...
Article
Sinus of Valsalva aneurysm
A sinus of Valsalva aneurysm refers to abnormal dilatation of the sinus of valsalva and is a cause of thoracic aortic dilatation. Sinus of Valsalva aneurysms arise from one of the aortic sinuses. They are either congenital or acquired.
Epidemiology
There is a male predilection (M:F ratio being...
Article
Absent thumb
An absent thumb can have many associations. They include:
Fanconi anemia (pancytopenia-dysmelia syndrome)
Franceschetti syndrome
Holt-Oram syndrome
phocomelia (e.g. thalidomide embryopathy)
Poland syndrome (pectoral muscle aplasia and syndactyly)
Rothmund-Thomson syndrome
Seckel syndrome ...
Article
Triphalangeal thumb
Triphalangeal thumb is considered a form of pre-axial polydactyly.
Epidemiology
Triphalangeal thumbs have an incidence of 1 in 25,000 7.
Associations
There is a long list of associations 1-6:
Aase syndrome
anatomic variant: isolated anomaly
Diamond-Blackfan syndrome
DOOR syndrome
Duan...
Article
Urethral duplication
Urethral duplication is a rare condition in which either a part of the entire urethra is duplicated. It usually occurs in the sagittal plane and the more dorsal copy is usually the duplication.
Pathology
Urethral duplications may occur due to a variety of developmental anomalies. In females, i...
Article
Higoumenakis sign (clavicle)
The Higoumenakis sign is the unilateral enlargement of the sternal end of the clavicle in patients with late congenital syphilis. It was originally described as a clinical sign on physical examination but can also be recognized on chest radiograph 5.
Pathology
Treponema pallidum becomes readil...
Article
Brugada syndrome
A cardiac "channelopathy" resulting from mutations in genes coding for cardiac sodium (Na+) channels, the Brugada syndrome is a common cardiac cause of sudden death in patients with structurally normal hearts.
Epidemiology
Age of diagnosis ranges from 2 days to 84 years old. It is estimated to...
Article
Low lying peroneus brevis muscle belly
Low lying peroneus brevis muscle belly (LLPB) is a rare congenital anomaly that makes the tendon more prone to tendon tear and subluxation 1,2. This condition is defined by the extension of the muscle belly to the level of the fibular groove.
Differential diagnosis
Peroneus quartus muscle - as...
Article
Double inlet left ventricle
Double inlet left ventricle (DILV) describes a congenital cardiac anomaly in which both atrioventricular valves are associated with a single ventricle which demonstrates left ventricular morphology.
Epidemiology
This uncommon entity constituents 1% of all congenital cardiac anomalies, and is o...
Article
Retroaortic anomalous coronary sign (echocardiography)
The retroaortic anomalous coronary (RAC) sign describes the sonographic appearance of an anomalous left coronary artery traveling posteriorly to the aortic root. It is most commonly observed with anomalous origin of the left circumflex artery from the right sinus of Valsalva, but is also describ...
Article
Somite
Somites, also known as metameres, are paired populations of cells that arise on either side of the neural tube in the developing embryo and set out a plan for the compartmentalised development of the body 1-3.
Immature somites are multipotent and can differentiate into many tissues including de...
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