Items tagged “congenital anomaly”
59 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...
Case
Autosomal dominant polycystic kidney disease with extensive hepatic involvement
Published
17 Dec 2008
53% complete
CT
Case
Hydrocele of canal of Nuck
Published
21 Mar 2009
44% complete
Ultrasound
Case
Congenital diaphragmatic hernia
Published
25 Oct 2009
94% complete
X-ray
Case
Horseshoe kidney
Published
06 Nov 2009
45% complete
CT
Case
Acrania-exencephaly sequence
Published
23 Nov 2009
69% complete
Ultrasound
X-ray
Case
Proximal femoral focal deficiency
Published
15 Dec 2019
91% complete
X-ray
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...
Case
Talipes equinovarus (clubfoot)
Published
22 Apr 2010
75% complete
X-ray
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...
Case
Poland syndrome
Published
22 Aug 2010
64% complete
CT
X-ray
Case
Absent thumb
Published
25 Aug 2010
91% complete
X-ray
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 ...
Case
Triphalangeal thumb
Published
25 Aug 2010
72% complete
X-ray
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...
Case
Truncus arteriosus
Published
05 Sep 2010
60% complete
X-ray
Case
Butterfly vertebra
Published
13 Sep 2010
88% complete
X-ray
Case
Sacral agenesis
Published
21 Sep 2010
69% complete
X-ray
Case
Discoid meniscus
Published
21 Oct 2010
65% complete
MRI
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